Variant
ITGB3 C601R
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg)
- p.Cys601Arg
- p.C601R
- rs747534508
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 6 September 2020
- 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-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
C601R is a missense variant in ITGB3: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Glanzmann Thrombasthenia (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Glanzmann ThrombastheniaClinVar VCV001210194 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 6 September 2020 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ITGB3
C601R lies in exon 11 of the 15 in ITGB3's MANE Select transcript, NM_000212.3.
Molecular details
| Gene | ITGB3 |
|---|---|
| Transcript | NM_000212.3MANE Select |
| Coding DNA change (HGVS c.) | c.1801T>C |
| Protein change (HGVS p.) | p.Cys601Argp.C601R |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr17:47299418 T>C |
| Position (GRCh37) | chr17:45376784 T>C |
| dbSNP ID | rs747534508 (opens in a new tab) |
| ClinVar Variation ID | VCV001210194 (opens in a new tab) |
| ClinVar Allele ID | 1200206 |
| ClinGen Allele Registry ID | CA8623361 (opens in a new tab) |
| ClinVar name | NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) |
ITGB3 C601R in other databases
Reports that look at this variant (1)
These Genome Test condition reports include C601R among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Inherited Platelet Function Disorders | Glanzmann Thrombasthenia | Autosomal recessive |
Other variants in ITGB3
- A19Gfs*36Pathogenic3 stars out of 4
- A76Pfs*10Pathogenic3 stars out of 4
- A283Ifs*12Pathogenic3 stars out of 4
- A398Pfs*24Pathogenic3 stars out of 4
- c.79+1G>APathogenic3 stars out of 4
- c.161_165+1delinsCTGATTPathogenic3 stars out of 4
- c.166-2A>GPathogenic3 stars out of 4
- c.361+1G>APathogenic3 stars out of 4
- c.362-1G>ALikely pathogenic3 stars out of 4
- c.612_614+1delPathogenic3 stars out of 4
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
Dante Labs. (16 October 2026). ITGB3 C601R (c.1801T>C, rs747534508) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/itgb3/variants/c601r
Dante Labs. ITGB3 C601R (c.1801T>C, rs747534508) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itgb3/variants/c601r
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