View all transcript variants in gene ISCU

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Owner     
./. - - c.149G>A p.(Gly50Glu) - - - - 12 Unknown - g.108958089G>A - - - ISCU_000001 MSCV_0000483 - - ; clinvar; - - - - -
+/+ - 2/6 c.149G>A p.(Gly50Glu) probably_damaging(1) missense_variant - deleterious(0) 12 Unknown subst g.108958089G>A - 6.060 - ISCU_000001 MSCV_0000483 rs267607190 - ; clinvar; 19567699 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium