RGD:8606210 Rat Genome Database

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Variant: RGD:8606210 -  Homo sapiens

RGD ID: 8606210
RS ID: rs397516352
ClinVar ID: CV52557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 55,665,483
GRCh38 19 55,154,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007866.2:g.8618T>C
NC_000019.10:g.55154115A>G
NC_000019.9:g.55665483A>G
NP_000354.4:p.Met155Thr
More... 		06/16/2011 missense|missense variant likely pathogenic all ages|variable 1-5 / 10 000|1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNNI3
Accession:NM_000363
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMTQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000036298 CLINVAR
dbSNP (RS) rs397516352 CLINVAR
MedGen C0007193 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
SNOMED CT 195021004 CLINVAR