NM_018979.4(WNK1):c.3373-8C>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003810380.1
Allele description [Variation Report for NM_018979.4(WNK1):c.3373-8C>A]
NM_018979.4(WNK1):c.3373-8C>A
Condition(s)
- Name:
- Neuropathy, hereditary sensory and autonomic, type 2A (HSAN2A)
- Synonyms:
- ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300
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BioProject for BioProject (Select 40797) (1)
BioProject
-
Conserved Domain Links for Gene (Select 26000) (4)
Conserved Domains
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Last Updated: Mar 5, 2024