ClinVar

NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51950133 (on Assembly GRCh38)
• Chr13: 52524269 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)

HGVS:

• NC_000013.11:g.51950133G>A
• NG_008806.1:g.66362C>T
• NM_000053.4:c.2604C>TMANE SELECT
• NM_001005918.3:c.2118C>T
• NM_001243182.2:c.2271C>T
• NM_001330578.2:c.2370C>T
• NM_001330579.2:c.2352C>T
• NP_000044.2:p.Pro868=
• NP_001005918.1:p.Pro706=
• NP_001230111.1:p.Pro757=
• NP_001317507.1:p.Pro790=
• NP_001317508.1:p.Pro784=
• NC_000013.10:g.52524269G>A
• NM_000053.3:c.2604C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368902724

NCBI 1000 Genomes Browser:

rs368902724

Molecular consequence:

• NM_000053.4:c.2604C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.2271C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.2370C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.2352C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1