Variant (rsID / SNP)

rs200479612

rs200479612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCG. Location: chromosome 9, position 35,078,601. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:35078601
Cytoband: 9p13.3
HGVS: NM_004629.2(FANCG):c.307+1G>C
Allele change: Silent

Associated conditions / phenotypes

Fanconi anemia complementation group G|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.