ClinVar

NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)

Gene:

ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 78011239 (on Assembly GRCh38)
• ChrX: 77266736 (on Assembly GRCh37)

Preferred name:

NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)

HGVS:

• NC_000023.11:g.78011239C>T
• NG_013224.2:g.105543C>T
• NM_000052.7:c.1933C>TMANE SELECT
• NM_001282224.2:c.1933C>T
• NP_000043.4:p.Arg645Ter
• NP_001269153.1:p.Arg645Ter
• NP_001269153.1:p.Arg645Ter
• NC_000023.10:g.77266736C>T
• NM_000052.4:c.1933C>T
• NM_000052.6:c.1933C>T
• NM_001282224.1:c.1933C>T
• p.Arg645*

This HGVS expression did not pass validation

Protein change:

R645*

Links:

dbSNP: rs72554640

NCBI 1000 Genomes Browser:

rs72554640

Molecular consequence:

• NM_000052.7:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282224.2:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]