NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val) AND multiple conditions
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001043392.10
Allele description [Variation Report for NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)]
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)
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
Assertion and evidence details
Last Updated: Sep 29, 2024