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Variant (rsID / SNP)

rs36070315

FANCD2

rs36070315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,105,516. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCD2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:10105516
Cytoband
3p25.3
HGVS
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
Allele change
Missense_Q623P

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group A|Fanconi anemia complementation group D2|Hereditary breast ovarian cancer syndrome

Public references

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