Variant (rsID / SNP)
rs137853229
rs137853229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,738,796. Clinical significance in the table: Pathogenic.
Reference-table entries
RECQL4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:145738796
- Cytoband
- 8q24.3
- HGVS
- NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
- Allele change
- Nonsense_Q757X
Associated conditions / phenotypes
Rothmund-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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.