Variant (rsID / SNP)

rs200172019

rs200172019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTSL4. Location: chromosome 1, position 150,532,256. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADAMTSL4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:150532256
Cytoband: 1q21.2
HGVS: NM_019032.6(ADAMTSL4):c.2963G>C (p.Gly988Ala)
Allele change: Missense_G949A

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.