ClinVar

NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51934853 (on Assembly GRCh38)
• Chr13: 52508989 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)

HGVS:

• NC_000013.11:g.51934853G>A
• NG_008806.1:g.81642C>T
• NM_000053.4:c.4301C>TMANE SELECT
• NM_001005918.3:c.3680C>T
• NM_001243182.2:c.3968C>T
• NM_001330578.2:c.4067C>T
• NM_001330579.2:c.4049C>T
• NP_000044.2:p.Thr1434Met
• NP_001005918.1:p.Thr1227Met
• NP_001230111.1:p.Thr1323Met
• NP_001317507.1:p.Thr1356Met
• NP_001317508.1:p.Thr1350Met
• NC_000013.10:g.52508989G>A
• NM_000053.3:c.4301C>T
• P35670:p.Thr1434Met

This HGVS expression did not pass validation

Protein change:

T1227M

Links:

UniProtKB: P35670#VAR_009032; dbSNP: rs60986317

NCBI 1000 Genomes Browser:

rs60986317

Molecular consequence:

• NM_000053.4:c.4301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.3680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.3968C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.4067C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.4049C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

34