NM_000053.4(ATP7B):c.2448-25G>A AND Wilson disease
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001000023.19
Allele description [Variation Report for NM_000053.4(ATP7B):c.2448-25G>A]
NM_000053.4(ATP7B):c.2448-25G>A
Condition(s)
-
phosphoglycerate mutase 1 (brain), isoform CRA_a, partial [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_a, partial [Homo sapiens]gi|119570322|gb|EAW49937.1||gnl|WGS |hCP1917485Protein
-
phosphoglycerate mutase 1 (brain), isoform CRA_e [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_e [Homo sapiens]gi|119570327|gb|EAW49942.1||gnl|WGS |hCP1897295Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|189065433|dbj|BAG35272.1|Protein
-
Homologene neighbors for GEO Profiles (Select 132351126) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 132386270) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024