Variant (rsID / SNP)

rs138151018

rs138151018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,658,156. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:45658156
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)
Allele change: Missense_R1618Q

Associated conditions / phenotypes

Fanconi anemia|Hereditary cancer-predisposing syndrome

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.