Variant (rsID / SNP)

rs139801716

rs139801716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCL, VRK2. Location: chromosome 2, position 58,390,589. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:58390589
Cytoband: 2p16.1
HGVS: NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
Allele change: Missense_F257C

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group L

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.