Variant (rsID / SNP)

rs148100796

rs148100796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,865,605. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89865605
Cytoband: 16q24.3
HGVS: NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
Allele change: Nonsense_E288X

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group A

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.