Variant (rsID / SNP)

rs77374493

rs77374493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,606,290. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCMConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:45606290
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)
Allele change: Missense_T176I

Associated conditions / phenotypes

Fanconi anemia|Spermatogenic failure 28

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.