ClinVar

NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51950298 (on Assembly GRCh38)
• Chr13: 52524434 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)

HGVS:

• NC_000013.11:g.51950298G>A
• NG_008806.1:g.66197C>T
• NM_000053.4:c.2549C>TMANE SELECT
• NM_001005918.3:c.2063C>T
• NM_001243182.2:c.2216C>T
• NM_001330578.2:c.2315C>T
• NM_001330579.2:c.2297C>T
• NP_000044.2:p.Thr850Ile
• NP_001005918.1:p.Thr688Ile
• NP_001230111.1:p.Thr739Ile
• NP_001317507.1:p.Thr772Ile
• NP_001317508.1:p.Thr766Ile
• NC_000013.10:g.52524434G>A
• NM_000053.3:c.2549C>T
• p.Thr850Ile

This HGVS expression did not pass validation

Protein change:

T688I

Links:

dbSNP: rs777629392

NCBI 1000 Genomes Browser:

rs777629392

Molecular consequence:

• NM_000053.4:c.2549C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.2063C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.2216C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.2315C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.2297C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2