ClinVar

NM_000053.4(ATP7B):c.2340G>T (p.Leu780=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51958326 (on Assembly GRCh38)
• Chr13: 52532462 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.2340G>T (p.Leu780=)

HGVS:

• NC_000013.11:g.51958326C>A
• NG_008806.1:g.58169G>T
• NM_000053.4:c.2340G>TMANE SELECT
• NM_001005918.3:c.1870-719G>T
• NM_001243182.2:c.2007G>T
• NM_001330578.2:c.2122-719G>T
• NM_001330579.2:c.2088G>T
• NP_000044.2:p.Leu780=
• NP_001230111.1:p.Leu669=
• NP_001317508.1:p.Leu696=
• NC_000013.10:g.52532462C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2139527463

NCBI 1000 Genomes Browser:

rs2139527463

Molecular consequence:

• NM_001005918.3:c.1870-719G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330578.2:c.2122-719G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000053.4:c.2340G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.2007G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.2088G>T - synonymous variant - [Sequence Ontology: SO:0001819]