Variant (rsID / SNP)

rs36100288

rs36100288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM126A. Location: chromosome 11, position 85,365,116. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM126AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:85365116
Cytoband: 11q14.1
HGVS: NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
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.