ClinVar

NM_000053.4(ATP7B):c.3557-6C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 51939199 (on Assembly GRCh38)
• Chr13: 52513335 (on Assembly GRCh37)

Preferred name:

NM_000053.4(ATP7B):c.3557-6C>T

HGVS:

• NC_000013.11:g.51939199G>A
• NG_008806.1:g.77296C>T
• NM_000053.4:c.3557-6C>TMANE SELECT
• NM_001005918.3:c.2936-6C>T
• NM_001243182.2:c.3224-6C>T
• NM_001330578.2:c.3323-6C>T
• NM_001330579.2:c.3305-6C>T
• NC_000013.10:g.52513335G>A
• NM_000053.2:c.3557-6C>T
• NM_000053.3:c.3557-6C>T
• NM_001005918.2:c.2936-6C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs140708492

NCBI 1000 Genomes Browser:

rs140708492

Molecular consequence:

• NM_000053.4:c.3557-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005918.3:c.2936-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243182.2:c.3224-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330578.2:c.3323-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330579.2:c.3305-6C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

16