View all transcript variants in gene PNPLA8

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     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Splice distance     

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     

Variant_disease     

Owner     
./. c.634_637del p.(Asn212Hisfs*29) - - - - - r.(?) - 7 Unknown - g.108155299_108155302del - - - PNPLA8_000002 MSCV_0022261 - - ; clinvar; - - - - -
./. c.2275_2276del p.(Leu759Alafs*4) - - - - - r.(?) - 7 Unknown - g.108112918_108112919del - - - PNPLA8_000001 MSCV_0022260 - - ; clinvar; - - - - -
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