Gene entry
RECQL4
RecQ like helicase 4
- Chromosome
- 8
- Cytoband
- 8q24.3
- Variants (rsID)
- 18
RECQL4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q24.3). Its official name is “RecQ like helicase 4”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs146398243Benignsingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs34293591Benignsingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs34914400Benignsingle nucleotide variantBaller-Gerold syndrome
- rs35098923Benignsingle nucleotide variantBaller-Gerold syndrome
- rs35407712Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Baller-Gerold syndrome
- rs4925828Benignsingle nucleotide variantBaller-Gerold syndrome|Rothmund-Thomson syndrome type 2|Rapadilino syndrome
- rs61755066Benignsingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs190388213Conflicting interpretationssingle nucleotide variantBaller-Gerold syndrome
- rs34666647Conflicting interpretationssingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs35225938Conflicting interpretationssingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs36078464Conflicting interpretationssingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs188859497Likely benignsingle nucleotide variantBaller-Gerold syndrome
- rs386833844Likely pathogenicsingle nucleotide variantRapadilino syndrome|Baller-Gerold syndrome
- rs137853229Pathogenicsingle nucleotide variantRothmund-Thomson syndrome|Baller-Gerold syndrome|Inborn genetic diseases|Rothmund-Thomson syndrome|Rapadilino syndrome|Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2|Rothmund-Thomson syndrome type 2|Rapadilino syndrome|Baller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs386833851Pathogenicsingle nucleotide variantRapadilino syndrome|Baller-Gerold syndrome|Hereditary cancer-predisposing syndrome
- rs746636748PathogenicDeletionBaller-Gerold syndrome|Rothmund-Thomson syndrome type 2
- rs186739072Uncertain significancesingle nucleotide variantBaller-Gerold syndrome|Rothmund-Thomson syndrome type 2
- rs190061994Uncertain significancesingle nucleotide variantBaller-Gerold syndrome|Hereditary cancer-predisposing syndrome
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.