NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765527.2
Allele description [Variation Report for NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)]
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)
Condition(s)
- Name:
- Primary erythromelalgia
- Synonyms:
- Erythermalgia, primary; SCN9A-Related Inherited Erythromelalgia
- Identifiers:
- MONDO: MONDO:0007571; MedGen: C0014805; Orphanet: 306577; Orphanet: 90026; OMIM: 133020
- 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
- Name:
- Paroxysmal extreme pain disorder (PEXPD)
- Synonyms:
- PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL
- Identifiers:
- MONDO: MONDO:0008179; MedGen: C1833661; Orphanet: 46348; OMIM: 167400
- Name:
- Severe myoclonic epilepsy in infancy (DRVT)
- Synonyms:
- Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208
- 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: May 7, 2024