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Variant (rsID / SNP)

rs144008013

FANCM

rs144008013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,665,603. 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
14:45665603
Cytoband
14q21.2
HGVS
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
Allele change
Missense_V1831M

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia, complementation group M|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.