NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003308349.2
Allele description [Variation Report for NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)]
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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serpin B6 isoform X1 [Homo sapiens]
serpin B6 isoform X1 [Homo sapiens]gi|2217361765|ref|XP_047274840.1|Protein
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PREDICTED: Homo sapiens serpin family B member 6 (SERPINB6), transcript variant ...
PREDICTED: Homo sapiens serpin family B member 6 (SERPINB6), transcript variant X2, mRNAgi|2462608886|ref|XM_054355631.1|Nucleotide
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Protein Links for Nucleotide (Select 338827704) (2)
Protein
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Last Updated: Sep 29, 2024