View all transcript variants in gene RET

Information The variants shown are described using the NM_020975.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.2410G>A p.(Val804Met) missense_variant - 14/19 probably_damaging(1) r.(?) deleterious(0.03) subst g.43614996G>A - 5.360 - RET_000001 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - LOVD
+/+ c.2410G>C p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02) subst g.43614996G>C - 5.360 - RET_000002 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - LOVD
+/+ c.2410G>T p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02) subst g.43614996G>T - 5.360 - RET_000003 rs79658334 - ; clinvar; 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 - - LOVD
+/+ c.2647_2648delinsTT p.(Ala883Phe) - - - - r.(?) - delins g.43615568_43615569delinsTT - - - RET_000004 rs377767429 - ; clinvar; 9294615 - - LOVD
+/+ c.2711C>G p.(Ser904Cys) missense_variant - 15/19 probably_damaging(0.999) r.(?) deleterious(0.01) subst g.43615632C>G - 5.580 - RET_000005 rs267607011 - ; clinvar; 11788682;17895320 - - LOVD
+/+ c.2711C>T p.(Ser904Phe) missense_variant - 15/19 probably_damaging(1) r.(?) deleterious(0) subst g.43615632C>T - 5.580 - RET_000006 rs267607011 - ; clinvar; 11788682;17895320 - - LOVD
+/+ c.2753T>C p.(Met918Thr) missense_variant - 16/19 probably_damaging(1) r.(?) deleterious(0) subst g.43617416T>C - 5.430 - RET_000007 rs74799832 - ; clinvar; 15531714;18252215;7824936;9620546;23757202;7977365;2660074;3078962;7536460;7911697;{PMID:7906417:79064 - - LOVD
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