RGD:401856077 Rat Genome Database

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Variant: RGD:401856077 -  Homo sapiens

RGD ID: 401856077
ClinVar ID: CV2476322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,384,358
GRCh38 1 201,415,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003281.4:c.40C>T
NG_016649.2:g.11517C>T
NC_000001.11:g.201415230G>A
NC_000001.10:g.201384358G>A
More... 		missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TNNI1
Accession:NM_003281
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEVERKPKITASCKLLLKSLMLAKAKECWEQEHEEREAEKVRYLAERIPTLQTRGLSLSALQDLCRELHAKVEVVDEER
YDIEAKCLHNTREIKDLKLKVMDLRGKFKRPPLRRVRVSADAMLRALLGSKHKVSMDLRANLKSVKKEDTEKERPVEVGD
WRKNVEAMSGMEGRKKMFDAAKSPTSQ*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003333902 CLINVAR
NCBI Gene TNNI1 CLINVAR
OMIM 191042 CLINVAR