Variant (rsID / SNP)

rs138675752

rs138675752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,844,664. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCIBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:89844664
Cytoband: 15q26.1
HGVS: NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
Allele change: Synonymous_S999S

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group I

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.