Variant (rsID / SNP)
rs190388213
rs190388213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,740,630. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RECQL4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:145740630
- Cytoband
- 8q24.3
- HGVS
- NM_004260.4(RECQL4):c.1391-4G>T
- Allele change
- Silent
Associated conditions / phenotypes
Baller-Gerold syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.