Full data view for gene TNNT2

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

17 entries on 1 page. Showing entries 1 - 17.
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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     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

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.248A>G p.(Asn83Ser) missense_variant - 9/17 - r.(?) - Unknown subst g.201334784T>C - 4.680 - TNNT2_000006 rs397516450 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) - Unknown subst g.201334738A>C - -3.620 - TNNT2_000005 rs397516454 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.316G>A - - - - - - - Unknown - g.201334414C>T - - - TNNT2_000017 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.382G>A p.(Glu128Lys) missense_variant - 10/17 - r.(?) - Unknown subst g.201334348C>T - 4.100 - TNNT2_000004 rs397516461 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.421C>T p.(Arg141Trp) missense_variant - 11/17 - r.(?) - Unknown subst g.201333494G>A - 3.240 - TNNT2_000003 rs74315380 - ; clinvar; 15923195;22675533;14654368;15769782;21551322;12923187;15623536;17932326;23539503;15542288;{PMID - - - - - - - - - - - - - - - - - - -
+?/+? c.422G>A p.(Arg141Gln) missense_variant - 11/17 - r.(?) - Unknown subst g.201333493C>T - 4.280 - TNNT2_000002 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - - - - - - - - - - - - - - - - - -
+?/+? c.422G>C p.(Arg141Pro) missense_variant - 11/17 - r.(?) - Unknown subst g.201333493C>G - 4.280 - TNNT2_000001 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - - - - - - - - - - - - - - - - - -
+?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) - Unknown subst g.201333469C>T - 4.280 - TNNT2_000007 rs397516466 - ; clinvar; 20973921 - - - - - - - - - - - - - - - - - - -
-?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) - Unknown subst g.201333464G>T - 3.340 - TNNT2_000011 rs74315379 - ; clinvar; 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 - - - - - - - - - - - - - - - - - - -
-?/-? c.451C>T p.(Arg151Trp) missense_variant - 11/17 - r.(?) - Unknown subst g.201333464G>A - 3.340 - TNNT2_000010 rs74315379 - ; clinvar; 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 - - - - - - - - - - - - - - - - - - -
./. c.461G>A - - - - - - - Unknown - g.201333454C>T - - - TNNT2_000016 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) - Unknown subst g.201332519G>A - 2.900 - TNNT2_000009 rs397516469 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.548G>A p.(Arg183Gln) missense_variant - 12/17 - r.(?) - Unknown subst g.201332476C>T - 4.900 - TNNT2_000008 rs397516471 - ; clinvar; 19324435 - - - - - - - - - - - - - - - - - - -
+/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) - Unknown subst g.201331116C>A - 4.440 - TNNT2_000015 rs121964860 - ; clinvar; 15542288;15923195;20031601 - - - - - - - - - - - - - - - - - - -
+/+ c.649_651del p.(Lys217del) - - - - r.(?) - Unknown del g.201331100_201331102del - - - TNNT2_000014 rs121964859 - ; clinvar; 15542288;8088824;11106718 - - - - - - - - - - - - - - - - - - -
+/+ c.650_652del p.(Lys217del) - - - - r.(?) - Unknown del g.201331099_201331101del - - - TNNT2_000013 rs45578238 - ; clinvar; 11773635;15623536;18612386;20079745;23383212;23539503;12923187;15542288;11106718;11862580;{PMID - - - - - - - - - - - - - - - - - - -
+/+ c.829G>A p.(Asp277Asn) missense_variant - 15/16 - r.(?) - Unknown subst g.201328764C>T - 4.070 - TNNT2_000012 rs121964861 - ; clinvar; 15542288 - - - - - - - - - - - - - - - - - - -
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