Variant ID: 1-201333442-CG-TA

NM_000364.3(TNNT2):c.472_473delinsTA;(p.Arg158*)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: TNNT2: Arg158*
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000236918.7 c.457_458delinsTA p.Arg153* stop_gained 9/15 -
ENST00000360372.4 c.427_428delinsTA p.Arg143* stop_gained 8/14 -
ENST00000367315.2 c.442_443delinsTA p.Arg148* stop_gained 9/14 -
ENST00000367317.4 c.442_443delinsTA p.Arg148* stop_gained 9/15 -
ENST00000367318.5 c.442_443delinsTA p.Arg148* stop_gained 10/16 -
ENST00000367320.2 c.352_353delinsTA p.Arg118* stop_gained 10/15 -
ENST00000367322.1 c.442_443delinsTA p.Arg148* stop_gained 10/15 -
ENST00000421663.2 c.448_449delinsTA p.Arg150* stop_gained 10/15 -
ENST00000438742.1 c.427_428delinsTA p.Arg143* stop_gained 9/15 -
ENST00000455702.1 c.472_473delinsTA p.Arg158* stop_gained 11/12 -
ENST00000458432.2 c.478_479delinsTA p.Arg160* stop_gained 11/16 -
ENST00000466570.1 n.698_699delinsTA - non_coding_transcript_exon_variant 8/9 -
ENST00000479297.1 n.97_98delinsTA - non_coding_transcript_exon_variant 2/8 -
ENST00000491504.1 n.1681_1682delinsTA - non_coding_transcript_exon_variant 9/15 -
ENST00000503459.1 n.311_312delinsTA - non_coding_transcript_exon_variant 5/5 -
ENST00000509001.1 c.442_443delinsTA p.Arg148* stop_gained 10/16 -
ENST00000515042.1 n.368_369delinsTA - non_coding_transcript_exon_variant 4/8 -
NM_000364.4 c.472_473delinsTA p.Arg158* stop_gained 11/16 -
NM_001001430.3 c.442_443delinsTA p.Arg148* stop_gained 10/16 -
NM_001001431.3 c.442_443delinsTA p.Arg148* stop_gained 10/15 -
NM_001001432.3 c.427_428delinsTA p.Arg143* stop_gained 9/15 -
NM_001276345.2 c.472_473delinsTA p.Arg158* stop_gained 11/17 -
NM_001276346.2 c.352_353delinsTA p.Arg118* stop_gained 10/15 -
NM_001276347.2 c.442_443delinsTA p.Arg148* stop_gained 10/16 -