NM_000202.8(IDS):c.1285G>A (p.Val429Ile) AND Epidermolysis bullosa simplex with nail dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089666.1
Allele description [Variation Report for NM_000202.8(IDS):c.1285G>A (p.Val429Ile)]
NM_000202.8(IDS):c.1285G>A (p.Val429Ile)
Condition(s)
-
RAP1GAP[gene] (53)
ClinVar
-
Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 109, n...
Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 109, non-coding RNAgi|1917882240|ref|NR_170913.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023