Variant (rsID / SNP)

rs201573409

rs201573409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL. Location: chromosome 12, position 21,626,550. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RECQLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:21626550
Cytoband: 12p12.1
HGVS: NM_002907.4(RECQL):c.1382A>G (p.His461Arg)
Allele change: Missense_H461R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer 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.