NM_003221.4(TFAP2B):c.562A>G (p.Ser188Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002979603.1
Allele description
NM_003221.4(TFAP2B):c.562A>G (p.Ser188Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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"Cincinnati Children's Hospital Medical Center Genetics and Genom... (0)
"Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center"[submitter] AND "PDHA1"[gene]SearchClinVar
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"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RAD51... (7)
"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RAD51B"[gene]SearchClinVar
-
Nucleotide Links for Gene (Select 440335) (23)
Nucleotide
-
PREDICTED: Homo sapiens family with sequence similarity 200 member B (FAM200B), ...
PREDICTED: Homo sapiens family with sequence similarity 200 member B (FAM200B), transcript variant X13, mRNAgi|2217350296|ref|XM_047450112.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024