Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs375934957

COQ2

rs375934957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ2. Location: chromosome 4, position 84,205,724. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:84205724
Cytoband
4q21.23
HGVS
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)
Allele change
Missense_D115A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.