ClinVar

NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51935019 (on Assembly GRCh38)
• Chr13: 52509155 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)

HGVS:

• NC_000013.11:g.51935019G>A
• NG_008806.1:g.81476C>T
• NM_000053.4:c.4135C>TMANE SELECT
• NM_001005918.3:c.3514C>T
• NM_001243182.2:c.3802C>T
• NM_001330578.2:c.3901C>T
• NM_001330579.2:c.3883C>T
• NP_000044.2:p.Pro1379Ser
• NP_001005918.1:p.Pro1172Ser
• NP_001230111.1:p.Pro1268Ser
• NP_001317507.1:p.Pro1301Ser
• NP_001317508.1:p.Pro1295Ser
• NC_000013.10:g.52509155G>A
• NM_000053.2:c.4135C>T
• NM_000053.3:c.4135C>T
• NM_001005918.2:c.3514C>T
• P35670:p.Pro1379Ser

This HGVS expression did not pass validation

Protein change:

P1172S

Links:

UniProtKB: P35670#VAR_044494; dbSNP: rs181250704

NCBI 1000 Genomes Browser:

rs181250704

Molecular consequence:

• NM_000053.4:c.4135C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.3514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.3802C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.3901C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.3883C>T - missense variant - [Sequence Ontology: SO:0001583]