NM_001365536.1(SCN9A):c.2961C>T (p.Asn987=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003092344.3
Allele description [Variation Report for NM_001365536.1(SCN9A):c.2961C>T (p.Asn987=)]
NM_001365536.1(SCN9A):c.2961C>T (p.Asn987=)
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
-
RecName: Full=Lutropin subunit beta; Short=Lutropin beta chain; AltName: Full=Lu...
RecName: Full=Lutropin subunit beta; Short=Lutropin beta chain; AltName: Full=Luteinizing hormone subunit beta; Short=LH-B; Short=LSH-B; Short=LSH-beta; Flags: Precursorgi|75066886|sp|Q9BDI9.1|LSHB_PANTAProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024