NM_000053.4(ATP7B):c.3140dup (p.Asp1047fs) AND Wilson disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004013137.2
Allele description [Variation Report for NM_000053.4(ATP7B):c.3140dup (p.Asp1047fs)]
NM_000053.4(ATP7B):c.3140dup (p.Asp1047fs)
Condition(s)
-
602385903F1 NIH_MGC_93 Homo sapiens cDNA clone IMAGE:4514688 5', mRNA sequence
602385903F1 NIH_MGC_93 Homo sapiens cDNA clone IMAGE:4514688 5', mRNA sequencegi|13046974|gnl|dbEST|7929141|gb|BG 3.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024