Variant (rsID / SNP)
rs115937511
rs115937511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTSL4. Location: chromosome 1, position 150,530,009. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ADAMTSL4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:150530009
- Cytoband
- 1q21.2
- HGVS
- NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu)
- Allele change
- Missense_S657L
Associated conditions / phenotypes
Ectopia lentis 2, isolated, autosomal recessive|Ectopia lentis et pupillae|Ectopia lentis 2, isolated, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.