Variant (rsID / SNP)

rs201439643

rs201439643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAM9. Location: chromosome 8, position 38,884,212. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADAM9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:38884212
Cytoband: 8p11.22
HGVS: NM_003816.3(ADAM9):c.1013T>C (p.Val338Ala)
Allele change: Silent

Associated conditions / phenotypes

Cone-Rod Dystrophy, Recessive

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.