Full data view for gene TNNT2

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

15 entries on 1 page. Showing entries 1 - 15.
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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     

MSCV     

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 MSCV_0001699 rs397516450 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) - Unknown subst g.201334738A>C - -3.620 - TNNT2_000005 MSCV_0001698 rs397516454 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.382G>A p.(Glu128Lys) missense_variant - 10/17 - r.(?) - Unknown subst g.201334348C>T - 4.100 - TNNT2_000004 MSCV_0001697 rs397516461 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.421C>T p.(Arg141Trp) missense_variant - 11/17 - r.(?) - Unknown subst g.201333494G>A - 3.240 - TNNT2_000003 MSCV_0001696 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 MSCV_0001695 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - - - - - - - - - - - - - - - - - -
+?/+? c.422G>C p.(Arg141Pro) missense_variant - 11/17 - r.(?) - Unknown subst g.201333493C>G - 4.280 - TNNT2_000001 MSCV_0001694 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - - - - - - - - - - - - - - - - - -
+?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) - Unknown subst g.201333469C>T - 4.280 - TNNT2_000007 MSCV_0001693 rs397516466 - ; clinvar; 20973921 - - - - - - - - - - - - - - - - - - -
-?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) - Unknown subst g.201333464G>T - 3.340 - TNNT2_000011 MSCV_0001692 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 MSCV_0001691 rs74315379 - ; clinvar; 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 - - - - - - - - - - - - - - - - - - -
+?/+? c.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) - Unknown subst g.201332519G>A - 2.900 - TNNT2_000009 MSCV_0001690 rs397516469 - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? c.548G>A p.(Arg183Gln) missense_variant - 12/17 - r.(?) - Unknown subst g.201332476C>T - 4.900 - TNNT2_000008 MSCV_0001689 rs397516471 - ; clinvar; 19324435 - - - - - - - - - - - - - - - - - - -
+/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) - Unknown subst g.201331116C>A - 4.440 - TNNT2_000015 MSCV_0001688 rs121964860 - ; clinvar; 15542288;15923195;20031601 - - - - - - - - - - - - - - - - - - -
+/+ c.649_651del p.(Lys217del) - - - - r.(?) - Unknown del g.201331100_201331102del - - - TNNT2_000014 MSCV_0001687 rs121964859 - ; clinvar; 15542288;8088824;11106718 - - - - - - - - - - - - - - - - - - -
+/+ c.650_652del p.(Lys217del) - - - - r.(?) - Unknown del g.201331099_201331101del - - - TNNT2_000013 MSCV_0001686 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 MSCV_0001685 rs121964861 - ; clinvar; 15542288 - - - - - - - - - - - - - - - - - - -
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