NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) AND Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002279876.1
Allele description [Variation Report for NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)]
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)
Condition(s)
-
PREDICTED: Homo sapiens phosphodiesterase 10A (PDE10A), transcript variant X10, ...
PREDICTED: Homo sapiens phosphodiesterase 10A (PDE10A), transcript variant X10, mRNAgi|2462605656|ref|XM_054354074.1|Nucleotide
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Last Updated: Dec 24, 2023