View unique variants in gene FANCI

Information The variants shown are described using the NM_018193.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? 1 - - c.*301A>C - r.(=) p.(=) - - - - subst g.89859991A>C - -1.440 - FANCI_000002 - - ; POLG_MUT_DB; - - - LOVD
-/- 1 - - c.*304C>A - r.(=) p.(=) - - - - subst g.89859994C>A - 5.030 - POLG_000031 rs3087374 - ; clinVar; ensembl; POLG_MUT_DB; 20301791 - - LOVD
+?/+? 1 - - c.*323G>A - r.(=) p.(=) - - - - subst g.89860013G>A - 5.950 - FANCI_000001 - - ; POLG_MUT_DB; - - - LOVD
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