Variant (rsID / SNP)

rs190061994

rs190061994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,738,804. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RECQL4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:145738804
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln)
Allele change: Missense_R754Q

Associated conditions / phenotypes

Baller-Gerold syndrome|Hereditary cancer-predisposing 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.