Variant (rsID / SNP)

rs34397695

rs34397695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM126A. Location: chromosome 11, position 85,367,519. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TMEM126ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:85367519
Cytoband: 11q14.1
HGVS: NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)
Allele change: Missense_S118T

Associated conditions / phenotypes

Autosomal recessive optic atrophy, OPA7 type

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.