Variant (rsID / SNP)

rs137853041

rs137853041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAM9. Location: chromosome 8, position 38,874,817. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADAM9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:38874817
Cytoband: 8p11.22
HGVS: NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter)
Allele change: Silent

Associated conditions / phenotypes

Cone-rod dystrophy 9|Cone-rod dystrophy

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.