Variant (rsID / SNP)

rs140989943

rs140989943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TIMP3. Location: chromosome 22, position 33,257,397. Clinical significance in the table: Benign.

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Reference-table entries

TIMP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:33257397
Cytoband: 22q12.3
HGVS: NM_000362.5(TIMP3):c.*2033G>T
Allele change: Silent

Associated conditions / phenotypes

Sorsby fundus 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.