ClinVar Genomic variation as it relates to human health
NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
LOC121740638 | - | - | - | GRCh38 | - | 84 |
TFAP2A | - | - |
GRCh38 GRCh37 |
133 | 257 | |
TFAP2A-AS2 | - | - | GRCh38 | - | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 21, 2023 | RCV003479582.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 06, 2024