Variant (rsID / SNP)

rs11556797

rs11556797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM126A. Location: chromosome 11, position 85,365,211. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM126ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:85365211
Cytoband: 11q14.1
HGVS: NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)
Allele change: Silent

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.