NM_000443.4(ABCB4):c.1739A>G (p.Glu580Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002863925.2
Allele description [Variation Report for NM_000443.4(ABCB4):c.1739A>G (p.Glu580Gly)]
NM_000443.4(ABCB4):c.1739A>G (p.Glu580Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
dipeptidylpeptidase 9 [Homo sapiens]
dipeptidylpeptidase 9 [Homo sapiens]gi|51988902|ref|NP_631898.2|Protein
-
Akt Akt kinase [Drosophila melanogaster]
Akt Akt kinase [Drosophila melanogaster]Gene ID:41957Gene
-
41957[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024