--- title: "CDKL5 N71D (c.211A>G, rs587783072) | Dante Labs" description: "ClinVar classifies CDKL5 N71D 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/cdkl5/variants/n71d" --- 1. [Genes](https://dantelabs.com/genes) 2. [CDKL5](https://dantelabs.com/genes/cdkl5) 3. CDKL5 N71D Variant # CDKL5 N71D NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) Also known as - p.N71D:AAC>GAC - p.Asn71Asp - p.N71D - rs587783072 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 25 August 2026 * Expert panel ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary N71D is a missense variant in CDKL5: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for CDKL5 Deficiency Disorder (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | -------------- | | [CDKL5 Deficiency Disorder](https://dantelabs.com/conditions/epilepsy-report) [ClinVar VCV000156591 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/156591/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 25 August 2026 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in CDKL5 N71D lies in exon 5 of the 18 in CDKL5's MANE Select transcript, NM_001323289.2. [CDKL5 variants in exon 5 →](https://dantelabs.com/genes/cdkl5/variants?exon=5) [CDKL5's gene diagram →](https://dantelabs.com/genes/cdkl5#gene-structure) ## Molecular details | Gene | [CDKL5](https://dantelabs.com/genes/cdkl5) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001323289.2 MANE Select | | Coding DNA change (HGVS c.) | c.211A>G | | Protein change (HGVS p.) | p.Asn71Asp p.N71D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:18575419 A>G | | Position (GRCh37) | chrX:18593539 A>G | | dbSNP ID | [rs587783072 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs587783072) | | ClinVar Variation ID | [VCV000156591 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/156591/) | | ClinVar Allele ID | 166445 | | ClinGen Allele Registry ID | [CA199365 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA199365) | | ClinVar name | NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) | | Other names | p.N71D:AAC>GAC | ## CDKL5 N71D in other databases - [ClinVar VCV000156591 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/156591/) - [dbSNP rs587783072 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs587783072) - [ClinGen Allele Registry CA199365 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA199365) - [gnomAD X-18575419-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-18575419-A-G?dataset=gnomad_r4) - [Ensembl rs587783072 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs587783072) ## Reports that look at this variant (1) These Genome Test condition reports include N71D among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------- | ------------------------- | ----------------- | | [Epilepsy (Full Panel)](https://dantelabs.com/conditions/epilepsy-report) | CDKL5 Deficiency Disorder | X-linked dominant | ## Other variants in CDKL5 - [A40V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/a40v) - [A157P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/a157p) - [A157V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/a157v) - [c.146-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/c-146-1g-a) - [c.2151A>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/c-2151a-g) - [C30Y Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/c30y) - [C152R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/c152r) - [D193G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/d193g) - [D193V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/d193v) - [E74X Pathogenic 3 stars out of 4](https://dantelabs.com/genes/cdkl5/variants/e74x) [All CDKL5 variants](https://dantelabs.com/genes/cdkl5/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). CDKL5 N71D (c.211A>G, rs587783072) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/cdkl5/variants/n71d Vancouver > Dante Labs. CDKL5 N71D (c.211A>G, rs587783072) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/cdkl5/variants/n71d Download citation [RIS](https://dantelabs.com/genes/cdkl5/variants/n71d/cite.ris) [BibTeX](https://dantelabs.com/genes/cdkl5/variants/n71d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/cdkl5/variants/n71d/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)