NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001406731.6
Allele description [Variation Report for NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=)]
NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=)
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: Feb 28, 2024