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Variant (rsID / SNP)

rs143279888

SLX4

rs143279888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,658,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLX4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:3658735
Cytoband
16p13.3
HGVS
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
Allele change
Synonymous_Q77Q

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group P

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.