Variant (rsID / SNP)

rs188859497

rs188859497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,741,989. Clinical significance in the table: Likely benign.

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Reference-table entries

RECQL4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:145741989
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe)
Allele change: Missense_L172F

Associated conditions / phenotypes

Baller-Gerold syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.