Variant (rsID / SNP)

rs137853147

rs137853147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS2. Location: chromosome 5, position 178,557,006. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ADAMTS2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:178557006
Cytoband: 5q35.3
HGVS: NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)
Allele change: Nonsense_W795X

Associated conditions / phenotypes

Ehlers-Danlos syndrome, dermatosparaxis type

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.