NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) AND Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001134342.4
Allele description [Variation Report for NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)]
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
Condition(s)
- Name:
- Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Synonyms:
- ASYMBOLIA FOR PAIN; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Indifference to pain, congenital, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009459; MedGen: C1855739; Orphanet: 88642; Orphanet: 970; OMIM: 243000
Assertion and evidence details
Last Updated: Mar 5, 2024