Variant (rsID / SNP)

rs143936557

rs143936557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,076,416. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCD2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:10076416
Cytoband: 3p25.3
HGVS: NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
Allele change: Missense_I104T

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.