Variant (rsID / SNP)

rs267607097

rs267607097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLG1. Location: chromosome 2, position 84,670,472. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SUCLG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:84670472
Cytoband: 2p11.2
HGVS: NM_003849.4(SUCLG1):c.254G>C (p.Gly85Ala)
Allele change: Missense_G85A

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 9

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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