NM_020655.4(JPH3):c.677G>A (p.Arg226His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004403405.1
Allele description [Variation Report for NM_020655.4(JPH3):c.677G>A (p.Arg226His)]
NM_020655.4(JPH3):c.677G>A (p.Arg226His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA
Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNAgi|1519243287|ref|NM_152485.4|Nucleotide
-
ATP-binding cassette domain-containing protein, partial [Candidatus Thioglobus s...
ATP-binding cassette domain-containing protein, partial [Candidatus Thioglobus sp.]gi|2544519355|ref|WP_300307749.1|Protein
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Last Updated: May 7, 2024