NM_001365536.1(SCN9A):c.1465T>C (p.Ser489Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001931437.6
Allele description [Variation Report for NM_001365536.1(SCN9A):c.1465T>C (p.Ser489Pro)]
NM_001365536.1(SCN9A):c.1465T>C (p.Ser489Pro)
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
-
rpiA [Bifidobacterium longum subsp. longum JCM 1217]
rpiA [Bifidobacterium longum subsp. longum JCM 1217]Gene ID:69578855Gene
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Last Updated: Sep 29, 2024