ClinVar

NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51944162 (on Assembly GRCh38)
• Chr13: 52518298 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)

HGVS:

• NC_000013.11:g.51944162C>T
• NG_008806.1:g.72333G>A
• NM_000053.4:c.3190G>AMANE SELECT
• NM_001005918.3:c.2569G>A
• NM_001243182.2:c.2857G>A
• NM_001330578.2:c.2956G>A
• NM_001330579.2:c.2938G>A
• NP_000044.2:p.Glu1064Lys
• NP_001005918.1:p.Glu857Lys
• NP_001230111.1:p.Glu953Lys
• NP_001317507.1:p.Glu986Lys
• NP_001317508.1:p.Glu980Lys
• NC_000013.10:g.52518298C>T
• NM_000053.3:c.3190G>A
• p.Glu1064Lys

This HGVS expression did not pass validation

Protein change:

E1064K

Links:

dbSNP: rs376910645

NCBI 1000 Genomes Browser:

rs376910645

Molecular consequence:

• NM_000053.4:c.3190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.2569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.2857G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.2956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.2938G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1