RGD:14688934 Rat Genome Database

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Variant: RGD:14688934 -  Homo sapiens

RGD ID: 14688934
RS ID: rs1361179427
ClinVar ID: CV614870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,659,278
GRCh38 2 178,794,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256850.1:c.1246G>A
NC_000002.12:g.178794551C>T
NM_003319.4:c.1246G>A
NM_133378.4:c.1246G>A
More... 		04/13/2016 missense variant uncertain significance Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TTN
Accession:NM_133437
Location:INTRON

Gene Symbol:TTN
Accession:NM_003319
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453098
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445668
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004820
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445660
Location:INTRON

Gene Symbol:TTN
Accession:NM_001256850
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453095
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004819
Location:INTRON

Gene Symbol:TTN
Accession:NM_133432
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004823
Location:INTRON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445665
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445661
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453099
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453097
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453100
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445663
Location:INTRON

Gene Symbol:TTN
Accession:NM_133378
Location:INTRON

Gene Symbol:TTN
Accession:NM_001267550
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004822
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004821
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770164 CLINVAR
dbSNP (RS) rs1361179427 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene TTN CLINVAR
OMIM 188840 CLINVAR
SNOMED CT 85898001 CLINVAR