ClinVar

NM_000053.4(ATP7B):c.747G>A (p.Leu249=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51974473 (on Assembly GRCh38)
• Chr13: 52548609 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.747G>A (p.Leu249=)

HGVS:

• NC_000013.11:g.51974473C>T
• NG_008806.1:g.42022G>A
• NM_000053.4:c.747G>AMANE SELECT
• NM_001005918.3:c.747G>A
• NM_001243182.2:c.747G>A
• NM_001330578.2:c.747G>A
• NM_001330579.2:c.747G>A
• NP_000044.2:p.Leu249=
• NP_001005918.1:p.Leu249=
• NP_001230111.1:p.Leu249=
• NP_001317507.1:p.Leu249=
• NP_001317508.1:p.Leu249=
• NC_000013.10:g.52548609C>T
• NM_000053.3:c.747G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs554554415

NCBI 1000 Genomes Browser:

rs554554415

Molecular consequence:

• NM_000053.4:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005918.3:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243182.2:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330578.2:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330579.2:c.747G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1