ClinVar

NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)

Gene:

ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51974385 (on Assembly GRCh38)
• Chr13: 52548521 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)

HGVS:

• NC_000013.11:g.51974385T>C
• NG_008806.1:g.42110A>G
• NM_000053.4:c.835A>GMANE SELECT
• NM_001005918.3:c.835A>G
• NM_001243182.2:c.802+33A>G
• NM_001330578.2:c.835A>G
• NM_001330579.2:c.835A>G
• NP_000044.2:p.Ile279Val
• NP_001005918.1:p.Ile279Val
• NP_001317507.1:p.Ile279Val
• NP_001317508.1:p.Ile279Val
• NC_000013.10:g.52548521T>C
• NM_000053.3:c.835A>G

This HGVS expression did not pass validation

Protein change:

I279V

Links:

dbSNP: rs1952002052

NCBI 1000 Genomes Browser:

rs1952002052

Molecular consequence:

• NM_001243182.2:c.802+33A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000053.4:c.835A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.835A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.835A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.835A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1