Genomic variant #0000001686

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.201331099_201331101del
Published as -
GERP -
Segregation -
DB-ID TNNT2_000013
dbSNP ID rs45578238
Frequency -
Sources ; clinvar;
Reference 11773635;15623536;18612386;20079745;23383212;23539503;12923187;15542288;11106718;11862580;{PMID
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 NM_000364.2 +/+ c.650_652del p.(Lys217del) - - - - r.(?) -
TNNT2 NM_000364.3 +/+ c.650_652del p.(Lys217del) - - - - r.(?) -


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
CD0031061201331099201331099HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available