ClinVar Genomic variation as it relates to human health
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
120 | 152 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2016 | RCV000210946.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs121912541 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jul 29, 2023
NCBI staff reviewed the sequence in Fig 1 of the paper by Zhou et al., 2013 (PubMed 23948678) to identify the location of this substitution on RefSeq sequences.