NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079748.8
Allele description
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
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
-
Mus musculus granzyme C (Gzmc), transcript variant 2, mRNA
Mus musculus granzyme C (Gzmc), transcript variant 2, mRNAgi|2513288025|ref|NM_001422210.1|Nucleotide
-
Homo sapiens twinkle mtDNA helicase (TWNK), RefSeqGene on chromosome 10
Homo sapiens twinkle mtDNA helicase (TWNK), RefSeqGene on chromosome 10gi|255918082|ref|NG_012624.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024