Variant (rsID / SNP)

rs41317525

rs41317525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTSL4. Location: chromosome 1, position 150,530,043. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ADAMTSL4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:150530043
Cytoband: 1q21.2
HGVS: NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=)
Allele change: Synonymous_A668A

Associated conditions / phenotypes

Ectopia lentis 2, isolated, autosomal 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.