Variant (rsID / SNP)

rs200363140

rs200363140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLX4. Location: chromosome 16, position 3,651,133. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLX4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:3651133
Cytoband: 16p13.3
HGVS: NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
Allele change: Missense_P337L

Associated conditions / phenotypes

Fanconi anemia

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.