Variant (rsID / SNP)

rs10420313

rs10420313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS10. Location: chromosome 19, position 8,651,335. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADAMTS10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:8651335
Cytoband: 19p13.2
HGVS: NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg)
Allele change: Missense_L295R

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.