ClinVar

NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51942482 (on Assembly GRCh38)
• Chr13: 52516618 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)

Other names:

p.Val1106Ile

HGVS:

• NC_000013.11:g.51942482C>T
• NG_008806.1:g.74013G>A
• NM_000053.4:c.3316G>AMANE SELECT
• NM_001005918.3:c.2695G>A
• NM_001243182.2:c.2983G>A
• NM_001330578.2:c.3082G>A
• NM_001330579.2:c.3064G>A
• NP_000044.2:p.Val1106Ile
• NP_001005918.1:p.Val899Ile
• NP_001230111.1:p.Val995Ile
• NP_001317507.1:p.Val1028Ile
• NP_001317508.1:p.Val1022Ile
• NC_000013.10:g.52516618C>T
• NM_000053.2:c.3316G>A
• NM_000053.3:c.3316G>A

This HGVS expression did not pass validation

Protein change:

V1022I

Links:

dbSNP: rs541208827

NCBI 1000 Genomes Browser:

rs541208827

Molecular consequence:

• NM_000053.4:c.3316G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005918.3:c.2695G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243182.2:c.2983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330578.2:c.3082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330579.2:c.3064G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2