ClinVar

NM_001206641.3(COA6):c.248A>G (p.Lys83Arg)

Gene:

COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.2

Genomic location:

• Chr1: 234374265 (on Assembly GRCh38)
• Chr1: 234510011 (on Assembly GRCh37)

Preferred name:

NM_001206641.3(COA6):c.248A>G (p.Lys83Arg)

HGVS:

• NC_000001.11:g.234374265A>G
• NG_034250.1:g.5829A>G
• NM_001012985.2:c.158A>G
• NM_001206641.3:c.248A>GMANE SELECT
• NM_001301733.1:c.20A>G
• NP_001013003.1:p.Lys53Arg
• NP_001193570.2:p.Lys83Arg
• NP_001288662.1:p.Lys7Arg
• NC_000001.10:g.234510011A>G

This HGVS expression did not pass validation

Protein change:

K53R

Links:

dbSNP: rs752996079

NCBI 1000 Genomes Browser:

rs752996079

Molecular consequence:

• NM_001012985.2:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206641.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301733.1:c.20A>G - missense variant - [Sequence Ontology: SO:0001583]