Variant (rsID / SNP)

rs10749657

rs10749657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTSL4. Location: chromosome 1, position 150,531,050. Clinical significance in the table: Benign.

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Reference-table entries

ADAMTSL4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:150531050
Cytoband: 1q21.2
HGVS: NM_019032.6(ADAMTSL4):c.2484G>A (p.Pro828=)
Allele change: Synonymous_P789P

Associated conditions / phenotypes

Ectopia lentis 2, isolated, autosomal recessive|Ectopia lentis et pupillae

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.