Variant (rsID / SNP)

rs149011965

rs149011965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,639,782. 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: 16:3639782
Cytoband: 16p13.3
HGVS: NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
Allele change: Missense_A1286V

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.