NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe) AND Progressive myoclonic epilepsy type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001908120.6
Allele description [Variation Report for NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe)]
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe)
Condition(s)
- Name:
- Progressive myoclonic epilepsy type 3
- Synonyms:
- EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; CEROID LIPOFUSCINOSIS, NEURONAL, 14; EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS
- Identifiers:
- MONDO: MONDO:0012721; MedGen: C2673257; Orphanet: 263516; OMIM: 611726
-
receptor-type tyrosine-protein phosphatase S isoform X16 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X16 [Homo sapiens]gi|2217322257|ref|XP_047295119.1|Protein
-
receptor-type tyrosine-protein phosphatase S isoform X5 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X5 [Homo sapiens]gi|2462566615|ref|XP_054177584.1|Protein
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Last Updated: Sep 29, 2024