Variant (rsID / SNP)

rs142353301

rs142353301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS10. Location: chromosome 19, position 8,651,584. Clinical significance in the table: Likely benign.

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Reference-table entries

ADAMTS10Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:8651584
Cytoband: 19p13.2
HGVS: NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe)
Allele change: Missense_S241F

Associated conditions / phenotypes

Weill-Marchesani syndrome

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.