Variant (rsID / SNP)

rs75182789

rs75182789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,633,105. 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: 16:3633105
Cytoband: 16p13.3
HGVS: NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)
Allele change: Missense_S1716T

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group P

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.