RGD:8599020 Rat Genome Database

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Variant: RGD:8599020 -  Homo sapiens

RGD ID: 8599020
RS ID: rs77615401
ClinVar ID: CV27460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,667,607
GRCh38 19 55,156,239
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007866.2:g.6494C>T
NC_000019.10:g.55156239G>A
NC_000019.9:g.55667607G>A
NP_000354.4:p.Pro82Ser
More... 		06/03/2019 missense|missense variant pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters AllHighlyPenetrant; AMYLOID CARDIOMYOPATHY; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Cardiomyopathies; Cardiomyopathy; CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE; Cardiomyopathy, dilated, 1N; CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Familial amyloid polyneuropathy; Familial hypertrophic cardiomyopathy 7; Familial Transthyretin Amyloidosis; Hereditary oculoleptomeningeal amyloid angiopathy; Hypertrophic cardiomyopathy 7; HYPERTROPHIC MYOCARDIOPATHY; none provided; TNNI3-Related Familial Hypertrophic Cardiomyopathy; Transthyretin amyloidosis; TTR amyloid neuropathy

Variant Details
Variant Transcripts
Gene Symbol:TNNI3
Accession:NM_000363
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QSLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:11815426   PMID:12860912   PMID:15524171   PMID:15607392   PMID:18175163   PMID:21310275   PMID:23967088   PMID:24033266   PMID:24510615   PMID:25324519   PMID:25741868   PMID:25940119  
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013233 CLINVAR
  RCV000036277 CLINVAR
  RCV000224174 CLINVAR
  RCV000229361 CLINVAR
  RCV000238609 CLINVAR
  RCV000252511 CLINVAR
  RCV000271700 CLINVAR
  RCV000277490 CLINVAR
  RCV000367372 CLINVAR
  RCV000852767 CLINVAR
  RCV001133540 CLINVAR
  RCV001135028 CLINVAR
  RCV002482859 CLINVAR
dbSNP (RS) rs77615401 CLINVAR
MedGen C0007194 CLINVAR
  C0340429 CLINVAR
  C0878544 CLINVAR
  C1860752 CLINVAR
  C1861861 CLINVAR
  C2678474 CLINVAR
  C2751492 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239222 CLINVAR
  CN239247 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 105210 CLINVAR
  115210 CLINVAR
  191044 CLINVAR
  611880 CLINVAR
  613286 CLINVAR
  613690 CLINVAR
OMIM Allele 191044.0003 CLINVAR
SNOMED CT 233878008 CLINVAR
  43532007 CLINVAR
  85898001 CLINVAR