Variant (rsID / SNP)

rs34936017

rs34936017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,081,411. Clinical significance in the table: Benign.

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Reference-table entries

FANCD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:10081411
Cytoband: 3p25.3
HGVS: NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
Allele change: Missense_T193A

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group D2

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.