ClinVar

NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51941087 (on Assembly GRCh38)
• Chr13: 52515223 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val)

HGVS:

• NC_000013.11:g.51941087T>C
• NG_008806.1:g.75408A>G
• NM_000053.4:c.3550A>GMANE SELECT
• NM_001005918.3:c.2929A>G
• NM_001243182.2:c.3217A>G
• NM_001330578.2:c.3316A>G
• NM_001330579.2:c.3298A>G
• NP_000044.2:p.Ile1184Val
• NP_001005918.1:p.Ile977Val
• NP_001230111.1:p.Ile1073Val
• NP_001317507.1:p.Ile1106Val
• NP_001317508.1:p.Ile1100Val
• NC_000013.10:g.52515223T>C

This HGVS expression did not pass validation

Protein change:

I1073V

Links:

dbSNP: rs1057519121

NCBI 1000 Genomes Browser:

rs1057519121

Molecular consequence:

• NM_000053.4:c.3550A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.3217A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.3316A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.3298A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1