Variant (rsID / SNP)

rs181782315

rs181782315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,633,486. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLX4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:3633486
Cytoband: 16p13.3
HGVS: NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)
Allele change: Missense_R1589C

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.