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Variant (rsID / SNP)

rs138225703

FANCM

rs138225703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,623,953. 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
14:45623953
Cytoband
14q21.2
HGVS
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
Allele change
Missense_Y413H

Associated conditions / phenotypes

Fanconi anemia|Spermatogenic failure 28|Premature ovarian failure 15|Spermatogenic failure 28|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.