Variant (rsID / SNP)
rs74124919
rs74124919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTSL4. Location: chromosome 1, position 150,531,078. Clinical significance in the table: Benign.
Reference-table entries
ADAMTSL4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:150531078
- Cytoband
- 1q21.2
- HGVS
- NM_019032.6(ADAMTSL4):c.2512A>G (p.Met838Val)
- Allele change
- Missense_M799V
Associated conditions / phenotypes
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.