Variant (rsID / SNP)
rs144567652
rs144567652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,667,921. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FANCMConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:45667921
- Cytoband
- 14q21.2
- HGVS
- NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
- Allele change
- Nonsense_R1905X
Associated conditions / phenotypes
Fanconi anemia|Spermatogenic failure 28|Malignant germ cell tumor of ovary|Familial cancer of breast|Azoospermia|Hereditary nonpolyposis colorectal carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.