NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002342718.2
Allele description [Variation Report for NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)]
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
unnamed protein product [Aspergillus niger]
unnamed protein product [Aspergillus niger]gi|134077929|emb|CAL00327.1|Protein
-
unknown protein [Arabidopsis thaliana]
unknown protein [Arabidopsis thaliana]gi|6016729|gb|AAF01555.1|AC009325_2 |TIGR|atg_51608_53122Protein
-
hypothetical protein CHLNCDRAFT_58899 [Chlorella variabilis]
hypothetical protein CHLNCDRAFT_58899 [Chlorella variabilis]gi|307104037|gb|EFN52293.1||gnl|WGS |CHLNCDRAFT_58899Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024