ClinVar Genomic variation as it relates to human health
NM_003722.5(TP63):c.1976del (p.Asn659fs)
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 | |||
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
689 | 751 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 5, 2018 | RCV000006917.4 |
Citations for germline classification of this variant
HelpText-mined citations for rs2108874645 ...
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 Dec 25, 2023
NCBI staff provided an HGVS expression for allelic variant 603273.0017 from the sequence reported in Figure 3 of the paper by Dianzani et al., 2003 (PubMed 14684701).