--- title: "GP9 F71C (c.212T>G, rs121918037) | Dante Labs" description: "ClinVar classifies GP9 F71C as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/gp9/variants/f71c" --- 1. [Genes](https://dantelabs.com/genes) 2. [GP9](https://dantelabs.com/genes/gp9) 3. GP9 F71C Variant # GP9 F71C NM_000174.5(GP9):c.212T>G (p.Phe71Cys) Also known as - p.Phe71Cys - p.F71C - rs121918037 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 20 January 2026 * Expert panel ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary F71C is a missense variant in GP9: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Bernard-Soulier Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | --------------- | | [Bernard-Soulier Syndrome](https://dantelabs.com/conditions/inherited-platelet-function-disorders) [ClinVar VCV001491487 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1491487/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 20 January 2026 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in GP9 F71C lies in exon 3 of the 3 in GP9's MANE Select transcript, NM_000174.5. [GP9 variants in exon 3 →](https://dantelabs.com/genes/gp9/variants?exon=3) [GP9's gene diagram →](https://dantelabs.com/genes/gp9#gene-structure) ## Molecular details | Gene | [GP9](https://dantelabs.com/genes/gp9) | | --------------------------- | ------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000174.5 MANE Select | | Coding DNA change (HGVS c.) | c.212T>G | | Protein change (HGVS p.) | p.Phe71Cys p.F71C | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr3:129061951 T>G | | Position (GRCh37) | chr3:128780794 T>G | | dbSNP ID | [rs121918037 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs121918037) | | ClinVar Variation ID | [VCV001491487 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1491487/) | | ClinVar Allele ID | 1342524 | | ClinGen Allele Registry ID | [CA2602666 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2602666) | | ClinVar name | NM_000174.5(GP9):c.212T>G (p.Phe71Cys) | ## GP9 F71C in other databases - [ClinVar VCV001491487 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1491487/) - [dbSNP rs121918037 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs121918037) - [ClinGen Allele Registry CA2602666 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2602666) - [gnomAD 3-129061951-T-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/3-129061951-T-G?dataset=gnomad_r4) - [Ensembl rs121918037 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs121918037) ## Reports that look at this variant (1) These Genome Test condition reports include F71C among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------------------------------------- | ------------------------ | ------------------- | | [Inherited Platelet Function Disorders](https://dantelabs.com/conditions/inherited-platelet-function-disorders) | Bernard-Soulier Syndrome | Autosomal recessive | ## Other variants in GP9 - [A159Rfs\*77 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/a159rfs77) - [C24R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/c24r) - [C38R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/c38r) - [C89Y Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/c89y) - [C135Y Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/c135y) - [D102_P105delinsA Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/d102-p105delinsa) - [F71S Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/f71s) - [G40Afs\*43 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/g40afs43) - [L7P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/l7p) - [L56P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp9/variants/l56p) [All GP9 variants](https://dantelabs.com/genes/gp9/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). GP9 F71C (c.212T>G, rs121918037) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/gp9/variants/f71c Vancouver > Dante Labs. GP9 F71C (c.212T>G, rs121918037) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/gp9/variants/f71c Download citation [RIS](https://dantelabs.com/genes/gp9/variants/f71c/cite.ris) [BibTeX](https://dantelabs.com/genes/gp9/variants/f71c/cite.bib) [CSL-JSON](https://dantelabs.com/genes/gp9/variants/f71c/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)