Variant (rsID / SNP)
rs145614612
rs145614612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STRA6. Location: chromosome 15, position 74,472,522. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
STRA6Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:74472522
- Cytoband
- 15q24.1
- HGVS
- NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser)
- Allele change
- Missense_G650S
Associated conditions / phenotypes
Matthew-Wood syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
