Variant (rsID / SNP)

rs146436929

rs146436929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,667,978. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FANCMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:45667978
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
Allele change: Missense_L1924V

Associated conditions / phenotypes

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.