NM_000053.4(ATP7B):c.3544G>C (p.Val1182Leu) AND Wilson disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004015086.2
Allele description [Variation Report for NM_000053.4(ATP7B):c.3544G>C (p.Val1182Leu)]
NM_000053.4(ATP7B):c.3544G>C (p.Val1182Leu)
Condition(s)
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Pisa armata]
cytochrome c oxidase subunit I, partial (mitochondrion) [Pisa armata]gi|2292842947|gb|UVT84518.1|Protein
-
PREDICTED: Populus euphratica uncharacterized LOC105133355 (LOC105133355), trans...
PREDICTED: Populus euphratica uncharacterized LOC105133355 (LOC105133355), transcript variant X1, mRNAgi|743878324|ref|XM_011037313.1|Nucleotide
-
1700029H14Rik protein [Mus musculus]
1700029H14Rik protein [Mus musculus]gi|29436578|gb|AAH49575.1|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024