Variant (rsID / SNP)

rs61757478

rs61757478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS2. Location: chromosome 5, position 178,580,549. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ADAMTS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:178580549
Cytoband: 5q35.3
HGVS: NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
Allele change: Synonymous_Y486Y

Associated conditions / phenotypes

Ehlers-Danlos syndrome, dermatosparaxis type|Ehlers-Danlos 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.