ClinVar

NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51939126 (on Assembly GRCh38)
• Chr13: 52513262 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)

HGVS:

• NC_000013.11:g.51939126C>T
• NG_008806.1:g.77369G>A
• NM_000053.4:c.3624G>AMANE SELECT
• NM_001005918.3:c.3003G>A
• NM_001243182.2:c.3291G>A
• NM_001330578.2:c.3390G>A
• NM_001330579.2:c.3372G>A
• NP_000044.2:p.Thr1208=
• NP_001005918.1:p.Thr1001=
• NP_001230111.1:p.Thr1097=
• NP_001317507.1:p.Thr1130=
• NP_001317508.1:p.Thr1124=
• NC_000013.10:g.52513262C>T
• NM_000053.3:c.3624G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs377267217

NCBI 1000 Genomes Browser:

rs377267217

Molecular consequence:

• NM_000053.4:c.3624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.3003G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.3291G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.3390G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.3372G>A - synonymous variant - [Sequence Ontology: SO:0001819]