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Variant (rsID / SNP)

rs143764421

ADAMTS2

rs143764421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS2. Location: chromosome 5, position 178,634,657. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ADAMTS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:178634657
Cytoband
5q35.3
HGVS
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
Allele change
Missense_A250T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.