Variant (rsID / SNP)

rs114472821

rs114472821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,640,715. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLX4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:3640715
Cytoband: 16p13.3
HGVS: NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
Allele change: Missense_P975L

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group P|Malignant tumor of breast

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.