ClinVar

NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)

Gene:

COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 226983786 (on Assembly GRCh38)
• Chr1: 227171487 (on Assembly GRCh37)

Preferred name:

NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)

HGVS:

• NC_000001.11:g.226983786C>T
• NG_012825.2:g.91251C>T
• NM_020247.5:c.1188C>TMANE SELECT
• NP_064632.2:p.Asp396=
• LRG_1092t1:c.1188C>T
• LRG_1092:g.91251C>T
• LRG_1092p1:p.Asp396=
• NC_000001.10:g.227171487C>T
• NM_020247.4:c.1188C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139133094

NCBI 1000 Genomes Browser:

rs139133094

Molecular consequence:

• NM_020247.5:c.1188C>T - synonymous variant - [Sequence Ontology: SO:0001819]