NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) AND Autosomal recessive ataxia, Beauce type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394511.5
Allele description [Variation Report for NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)]
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
Condition(s)
-
PREDICTED: Homo sapiens protein phosphatase 6 regulatory subunit 2 (PPP6R2), tra...
PREDICTED: Homo sapiens protein phosphatase 6 regulatory subunit 2 (PPP6R2), transcript variant X7, mRNAgi|2217340632|ref|XM_011530724.3|Nucleotide
-
RecName: Full=Coiled-coil domain-containing protein 167
RecName: Full=Coiled-coil domain-containing protein 167gi|160017504|sp|Q9P0B6.2|CC167_HUMAProtein
-
nucleoside triphosphate pyrophosphohydrolase [Desulfitobacterium hafniense]
nucleoside triphosphate pyrophosphohydrolase [Desulfitobacterium hafniense]gi|499778205|ref|WP_011458939.1|Protein
-
Focal segmental glomerulosclerosis 3
Focal segmental glomerulosclerosis 3MedGen
-
C4016880[conceptid] (1)
MedGen
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Last Updated: Jun 23, 2024