Full data view for gene APOPT1

Information The variants shown are described using the NM_032374.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
./. c.163-1G>A p.? - - - - r.spl? - Unknown - g.104037959G>A - - - APOPT1_000005 MSCV_0017459 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.235C>T p.(Arg79*) - - - - r.(?) - Unknown - g.104038032C>T - - - APOPT1_000004 MSCV_0017460 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.353T>C p.(Phe118Ser) - - - - r.(?) - Unknown - g.104038150T>C - - - APOPT1_000002 MSCV_0017461 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.365_367del p.(Glu124del) - - - - r.(?) - Unknown - g.104040448_104040450del - - - APOPT1_000003 MSCV_0017462 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
./. c.515+1G>A p.? - - - - r.spl? - Unknown - g.104053702G>A - - - APOPT1_000001 MSCV_0017463 - - ; clinvar; - - - - - - - - - - - - - - - - - - - - -
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