Unique variants in gene PRDM16

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

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     
./. 1 c.100G>A - - - - - - - - g.3102751G>A - - - PRDM16_000021 - - ; clinvar; - - - LOVD
./. 1 c.201G>A - - - - - - - - g.3102852G>A - - - PRDM16_000020 - - ; clinvar; - - - LOVD
./. 1 c.657A>C - - - - - - - - g.3313138A>C - - - PRDM16_000018 - - ; clinvar; - - - LOVD
./. 1 c.714C>A - - - - - - - - g.3319392C>A - - - PRDM16_000019 - - ; clinvar; - - - LOVD
./. 1 c.822C>T - - - - - - - - g.3319500C>T - - - PRDM16_000017 - - ; clinvar; - - - LOVD
+/+ 1 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
./. 1 c.1116G>A - - - - - - - - g.3322142G>A - - - PRDM16_000010 - - ; clinvar; - - - LOVD
./. 1 c.1134C>G - - - - - - - - g.3322160C>G - - - PRDM16_000011 - - ; clinvar; - - - LOVD
./. 1 c.1363G>A - - - - - - - - g.3328124G>A - - - PRDM16_000012 - - ; clinvar; - - - LOVD
./. 1 c.1578G>A - - - - - - - - g.3328339G>A - - - PRDM16_000013 - - ; clinvar; - - - LOVD
./. 1 c.1684G>A - - - - - - - - g.3328445G>A - - - PRDM16_000014 - - ; clinvar; - - - LOVD
./. 1 c.1977G>A - - - - - - - - g.3328738G>A - - - PRDM16_000015 - - ; clinvar; - - - LOVD
./. 1 c.2468G>C - - - - - - - - g.3329229G>C - - - PRDM16_000016 - - ; clinvar; - - - LOVD
./. 1 c.2634C>T - - - - - - - - g.3331154C>T - - - PRDM16_000004 - - ; clinvar; - - - LOVD
+/+ 1 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
./. 1 c.2856G>A - - - - - - - - g.3334556G>A - - - PRDM16_000005 - - ; clinvar; - - - LOVD
./. 1 c.3109+12G>C - - - - - - - - g.3342326G>C - - - PRDM16_000006 - - ; clinvar; - - - LOVD
./. 1 c.3110-4G>A - - - - - - - - g.3342611G>A - - - PRDM16_000007 - - ; clinvar; - - - LOVD
./. 1 c.3135G>A - - - - - - - - g.3342640G>A - - - PRDM16_000008 - - ; clinvar; - - - LOVD
+/+ 1 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
./. 1 c.3366C>T - - - - - - - - g.3347517C>T - - - PRDM16_000009 - - ; clinvar; - - - LOVD
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