Variant (rsID / SNP)

rs200371613

rs200371613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS17. Location: chromosome 15, position 100,657,072. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADAMTS17Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:100657072
Cytoband: 15q26.3
HGVS: NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)
Allele change: Missense_L623P

Associated conditions / phenotypes

Weill-Marchesani 4 syndrome, 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.