ClinVar

NM_000053.4(ATP7B):c.2964G>T (p.Gly988=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51946380 (on Assembly GRCh38)
• Chr13: 52520516 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2964G>T (p.Gly988=)

HGVS:

• NC_000013.11:g.51946380C>A
• NG_008806.1:g.70115G>T
• NM_000053.4:c.2964G>TMANE SELECT
• NM_001005918.3:c.2343G>T
• NM_001243182.2:c.2631G>T
• NM_001330578.2:c.2730G>T
• NM_001330579.2:c.2712G>T
• NP_000044.2:p.Gly988=
• NP_001005918.1:p.Gly781=
• NP_001230111.1:p.Gly877=
• NP_001317507.1:p.Gly910=
• NP_001317508.1:p.Gly904=
• NC_000013.10:g.52520516C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs761340503

NCBI 1000 Genomes Browser:

rs761340503

Molecular consequence:

• NM_000053.4:c.2964G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.2343G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.2631G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.2730G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.2712G>T - synonymous variant - [Sequence Ontology: SO:0001819]