NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) AND Familial dysautonomia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830162.1
Allele description [Variation Report for NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)]
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
Condition(s)
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
-
calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1 [Hom...
calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1 [Homo sapiens]gi|1395168531|ref|NP_001350918.1|Protein
-
Noturus lachneri isolate 308 cytochrome c oxidase subunit I (COX1) gene, partial...
Noturus lachneri isolate 308 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2450747448|gb|OQ554410.1|Nucleotide
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Last Updated: Sep 29, 2024