ClinVar

NM_004376.5(COX15):c.*3647A>T

Genes:

COX15:cytochrome c oxidase assembly homolog COX15 [Gene - OMIM - HGNC]
ENTPD7:ectonucleoside triphosphate diphosphohydrolase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 99709767 (on Assembly GRCh38)
• Chr10: 101469524 (on Assembly GRCh37)

Preferred name:

NM_004376.5(COX15):c.*3647A>T

HGVS:

• NC_000010.11:g.99709767T>A
• NG_008986.1:g.27900A>T
• NG_053079.1:g.55391T>A
• NM_001320974.2:c.1101+6581A>T
• NM_001349962.2:c.*5084T>A
• NM_001349963.2:c.*5084T>A
• NM_004376.5:c.*3647A>T
• NM_020354.5:c.*5084T>AMANE SELECT
• NM_078470.4:c.*4820A>T
• LRG_406t1:c.*4820A>T
• LRG_406t2:c.*3647A>T
• LRG_406:g.27900A>T
• NC_000010.10:g.101469524T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200422911

NCBI 1000 Genomes Browser:

rs200422911

Molecular consequence:

• NM_001349962.2:c.*5084T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001349963.2:c.*5084T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_020354.5:c.*5084T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001320974.2:c.1101+6581A>T - intron variant - [Sequence Ontology: SO:0001627]