View all transcript variants in gene HSPD1

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     

Owner     
+/+ - 2/3 c.86A>G p.(Asp29Gly) benign(0.021) missense_variant - deleterious(0.03) 2 Unknown subst g.198363487T>C - 4.870 - HSPD1_000001 MSCV_0000844 rs72466451 - ; clinVar; Ensembl; 18571143 - - -
./. - - c.86A>G - - - - - 2 Unknown - g.198363487T>C - - - HSPD1_000001 MSCV_0000844 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium