Variant (rsID / SNP)
rs4925828
rs4925828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,737,636. Clinical significance in the table: Benign.
Reference-table entries
RECQL4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:145737636
- Cytoband
- 8q24.3
- HGVS
- NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)
- Allele change
- Synonymous_L1043L
Associated conditions / phenotypes
Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2|Rapadilino syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.