All transcript variants in gene IBA57

Information The variants shown are described using the NM_001010867.2 transcript reference sequence.

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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.941A>C p.(Gln314Pro) missense_variant - 3/3 possibly_damaging(0.53) r.(?) tolerated(0.27) subst g.228363084A>C - 1.240 - IBA57_000001 - - ; clinvar; - - - LOVD
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