NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 20, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000516746.2
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln)]
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens pyruvate dehydrogenase kinase 1 (PDK1), transcript variant 2, mRNA;...
Homo sapiens pyruvate dehydrogenase kinase 1 (PDK1), transcript variant 2, mRNA; nuclear gene for mitochondrial productgi|1677556781|ref|NM_002610.5|Nucleotide
-
hypothetical protein BWL13_00685 [Microbacterium oleivorans]
hypothetical protein BWL13_00685 [Microbacterium oleivorans]gi|1547132041|gb|AZS43140.1|Protein
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Last Updated: May 7, 2024