NM_001365536.1(SCN9A):c.3894A>G (p.Leu1298=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002138639.6
Allele description [Variation Report for NM_001365536.1(SCN9A):c.3894A>G (p.Leu1298=)]
NM_001365536.1(SCN9A):c.3894A>G (p.Leu1298=)
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
-
rCG23817, isoform CRA_e [Rattus norvegicus]
rCG23817, isoform CRA_e [Rattus norvegicus]gi|149016168|gb|EDL75414.1||gnl|WGS |rCP40940Protein
-
LOC4347593 [Oryza sativa Japonica Group]
LOC4347593 [Oryza sativa Japonica Group]Gene ID:4347593Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024