ClinVar

NM_000053.4(ATP7B):c.3582C>A (p.Ile1194=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51939168 (on Assembly GRCh38)
• Chr13: 52513304 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3582C>A (p.Ile1194=)

HGVS:

• NC_000013.11:g.51939168G>T
• NG_008806.1:g.77327C>A
• NM_000053.4:c.3582C>AMANE SELECT
• NM_001005918.3:c.2961C>A
• NM_001243182.2:c.3249C>A
• NM_001330578.2:c.3348C>A
• NM_001330579.2:c.3330C>A
• NP_000044.2:p.Ile1194=
• NP_001005918.1:p.Ile987=
• NP_001230111.1:p.Ile1083=
• NP_001317507.1:p.Ile1116=
• NP_001317508.1:p.Ile1110=
• NC_000013.10:g.52513304G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs761183334

NCBI 1000 Genomes Browser:

rs761183334

Molecular consequence:

• NM_000053.4:c.3582C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.2961C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.3249C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.3348C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.3330C>A - synonymous variant - [Sequence Ontology: SO:0001819]