ClinVar

NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51958415 (on Assembly GRCh38)
• Chr13: 52532551 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)

HGVS:

• NC_000013.11:g.51958415C>A
• NG_008806.1:g.58080G>T
• NM_000053.4:c.2251G>TMANE SELECT
• NM_001005918.3:c.1870-808G>T
• NM_001243182.2:c.1918G>T
• NM_001330578.2:c.2122-808G>T
• NM_001330579.2:c.1999G>T
• NP_000044.2:p.Ala751Ser
• NP_001230111.1:p.Ala640Ser
• NP_001317508.1:p.Ala667Ser
• NC_000013.10:g.52532551C>A
• NM_000053.3:c.2251G>T

This HGVS expression did not pass validation

Protein change:

A640S

Links:

dbSNP: rs1555291181

NCBI 1000 Genomes Browser:

rs1555291181

Molecular consequence:

• NM_001005918.3:c.1870-808G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330578.2:c.2122-808G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000053.4:c.2251G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.1999G>T - missense variant - [Sequence Ontology: SO:0001583]