NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002327425.2
Allele description [Variation Report for NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)]
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Homo sapiens adaptor related protein complex 1 subunit beta 1 (AP1B1), transcrip...
Homo sapiens adaptor related protein complex 1 subunit beta 1 (AP1B1), transcript variant 7, mRNAgi|1811715286|ref|NM_001378565.1|Nucleotide
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Asteroideae internal transcribed spacer 1, partial sequence.
Asteroideae internal transcribed spacer 1, partial sequence.PopSet: 8132444PopSet
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Last Updated: Oct 8, 2024