View unique variants in gene IBA57

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 c.167G>A p.(Arg56His) - - - - r.(?) - 1 Unknown - g.228353684G>A - - - IBA57_000010 MSCV_0015753 - - ; clinvar; - - - -
./. 1 c.206T>C p.(Phe69Ser) - - - - r.(?) - 1 Unknown - g.228353723T>C - - - IBA57_000011 MSCV_0015754 - - ; clinvar; - - - -
./. 1 c.264C>G p.(=) - - - - r.(=) - 1 Unknown - g.228353781C>G - - - IBA57_000012 MSCV_0015755 - - ; clinvar; - - - -
./. 1 c.313C>T p.(Arg105Trp) - - - - r.(?) - 1 Unknown - g.228353830C>T - - - IBA57_000007 MSCV_0015756 - - ; clinvar; - - - -
./. 1 c.335T>G p.(Leu112Trp) - - - - r.(?) - 1 Unknown - g.228353852T>G - - - IBA57_000008 MSCV_0015757 - - ; clinvar; - - - -
./. 1 c.462C>T p.(=) - - - - r.(=) - 1 Unknown - g.228362513C>T - - - IBA57_000009 MSCV_0015758 - - ; clinvar; - - - -
./. 1 c.645C>T p.(=) - - - - r.(=) - 1 Unknown - g.228362696C>T - - - IBA57_000006 MSCV_0015759 - - ; clinvar; - - - -
./. 1 c.801C>T p.(=) - - - - r.(=) - 1 Unknown - g.228362944C>T - - - IBA57_000002 MSCV_0015760 - - ; clinvar; - - - -
./. 1 c.826C>T p.(Arg276Cys) - - - - r.(?) - 1 Unknown - g.228362969C>T - - - IBA57_000003 MSCV_0015761 - - ; clinvar; - - - -
+/+, ./. 2 c.941A>C p.(Gln314Pro) missense_variant - 3/3 possibly_damaging(0.53) r.(?) -, tolerated(0.27) 1 Unknown subst g.228363084A>C - 1.240 - IBA57_000001 MSCV_0000187 - - ; clinvar; - - - -
./. 1 c.947A>C p.(Asn316Thr) - - - - r.(?) - 1 Unknown - g.228363090A>C - - - IBA57_000004 MSCV_0015763 - - ; clinvar; - - - -
./. 1 c.961C>T p.(=) - - - - r.(=) - 1 Unknown - g.228363104C>T - - - IBA57_000005 MSCV_0015764 - - ; clinvar; - - - -
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