NM_000217.3(KCNA1):c.984G>T (p.Leu328=) AND Episodic ataxia type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002632948.3
Allele description [Variation Report for NM_000217.3(KCNA1):c.984G>T (p.Leu328=)]
NM_000217.3(KCNA1):c.984G>T (p.Leu328=)
Condition(s)
- Name:
- Episodic ataxia type 1 (EA1)
- Synonyms:
- ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008047; MedGen: C1719788; Orphanet: 972; OMIM: 160120
-
carnitine O-acetyltransferase isoform X3 [Mus musculus]
carnitine O-acetyltransferase isoform X3 [Mus musculus]gi|1720396891|ref|XP_030102925.1|Protein
-
phosphatidylserine lipase ABHD16A isoform X2 [Rattus norvegicus]
phosphatidylserine lipase ABHD16A isoform X2 [Rattus norvegicus]gi|2678924611|ref|XP_063135278.1|Protein
-
carnitine O-acetyltransferase isoform e [Mus musculus]
carnitine O-acetyltransferase isoform e [Mus musculus]gi|2496538551|ref|NP_001407008.1|Protein
-
PREDICTED: Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), tran...
PREDICTED: Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), transcript variant X10, mRNAgi|2462611074|ref|XM_054356661.1|Nucleotide
-
septin-10 [Xenopus tropicalis]
septin-10 [Xenopus tropicalis]gi|58331831|ref|NP_001011111.1|Protein
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Last Updated: Sep 29, 2024