View all transcript variants in gene PRDM16

Information The variants shown are described using the NM_022114.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.872C>T p.(Pro291Leu) missense_variant - 6/17 possibly_damaging(0.851) r.(?) deleterious(0.02) subst g.3319550C>T - 4.320 - PRDM16_000001 rs397514744 - ; clinvar; 23768516 - - LOVD
+/+ c.2660T>C p.(Leu887Pro) missense_variant - 10/17 possibly_damaging(0.883) r.(?) deleterious(0.05) subst g.3331180T>C - 4.940 - PRDM16_000002 rs202115331 - ; clinvar; 23768516 - - LOVD
+/+ c.3301G>A p.(Val1101Met) missense_variant - 15/17 possibly_damaging(0.533) r.(?) tolerated(0.13) subst g.3347452G>A - 1.660 - PRDM16_000003 rs201654872 - ; clinvar; 23768516 - - LOVD
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