View genomic variant #0000001687

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.201331100_201331102del
Published as -
GERP -
Segregation -
DB-ID TNNT2_000014
MSCV MSCV_0001687
dbSNP ID rs121964859
Frequency -
Sources ; clinvar;
Reference 15542288;8088824;11106718
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 00003241 NM_000364.2 0000001687 +/+ c.649_651del p.(Lys217del) - - - - r.(?) -
TNNT2 00003346 NM_000364.3 0000001687 +/+ c.649_651del p.(Lys217del) - - - - r.(?) -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1219648591201331100201331102CTT/-OMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1D
rs1219648591201331100201331102CTT/-OMIM phenotype variantsLeft ventricular noncompaction 6