ClinVar

NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51946368 (on Assembly GRCh38)
• Chr13: 52520504 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)

HGVS:

• NC_000013.11:g.51946368G>T
• NG_008806.1:g.70127C>A
• NM_000053.4:c.2976C>AMANE SELECT
• NM_001005918.3:c.2355C>A
• NM_001243182.2:c.2643C>A
• NM_001330578.2:c.2742C>A
• NM_001330579.2:c.2724C>A
• NP_000044.2:p.Pro992=
• NP_001005918.1:p.Pro785=
• NP_001230111.1:p.Pro881=
• NP_001317507.1:p.Pro914=
• NP_001317508.1:p.Pro908=
• NC_000013.10:g.52520504G>T
• NM_000053.3:c.2976C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs746358240

NCBI 1000 Genomes Browser:

rs746358240

Molecular consequence:

• NM_000053.4:c.2976C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.2355C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.2643C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.2742C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.2724C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2