Variant (rsID / SNP)

rs34293591

rs34293591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,738,669. Clinical significance in the table: Benign.

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Reference-table entries

RECQL4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:145738669
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.2395G>A (p.Val799Met)
Allele change: Missense_V799M

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.