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Variant (rsID / SNP)

rs34666647

RECQL4

rs34666647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,737,701. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RECQL4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:145737701
Cytoband
8q24.3
HGVS
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
Allele change
Missense_R1021Q

Associated conditions / phenotypes

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.