RGD:8609879 Rat Genome Database

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Variant: RGD:8609879 -  Homo sapiens

RGD ID: 8609879
RS ID: rs76081119
ClinVar ID: CV56174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  TTN-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 179,482,807
GRCh38 2 178,618,080
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
LRG_391t1:c.47271T>C
LRG_391:g.217723T>C
NG_011618.3:g.217723T>C
NC_000002.12:g.178618080A>G
More... 		09/10/2021 intron|intron variant|synonymous variant benign|likely benign|uncertain significance adult|all ages|childhood 1-9 / 100 000|<1 / 1 000 000 AllHighlyPenetrant; Autosomal recessive limb-girdle muscular dystrophy type 2J; Cardiomyopathies; CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Distal myopathy Markesbery-Griggs type; EDSTROM MYOPATHY; Hereditary myopathy with early respiratory failure; Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; none provided; Salih Myopathy; Tibial muscular dystrophy, tardive; Udd Distal Myopathy; UDD Myopathy
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TTN
Accession:XM_024453097
Location:EXON

Gene Symbol:TTN
Accession:XM_047445661
Location:EXON

Gene Symbol:TTN
Accession:XM_024453098
Location:EXON

Gene Symbol:TTN
Accession:NM_003319
Location:EXON

Gene Symbol:TTN
Accession:XM_017004820
Location:EXON

Gene Symbol:TTN
Accession:NM_133378
Location:EXON

Gene Symbol:TTN
Accession:XM_047445665
Location:EXON

Gene Symbol:TTN
Accession:NM_133432
Location:EXON

Gene Symbol:TTN
Accession:XM_017004822
Location:EXON

Gene Symbol:TTN
Accession:XM_047445663
Location:EXON

Gene Symbol:TTN
Accession:NM_133437
Location:EXON

Gene Symbol:TTN
Accession:XM_017004821
Location:EXON

Gene Symbol:TTN
Accession:XM_024453100
Location:EXON

Gene Symbol:TTN
Accession:XM_024453095
Location:EXON

Gene Symbol:TTN
Accession:XM_047445668
Location:EXON

Gene Symbol:TTN
Accession:NM_001256850
Location:EXON

Gene Symbol:TTN
Accession:NM_001267550
Location:EXON

Gene Symbol:TTN
Accession:XM_017004823
Location:EXON

Gene Symbol:TTN
Accession:XM_017004819
Location:EXON

Gene Symbol:TTN
Accession:XM_047445660
Location:EXON

Gene Symbol:TTN
Accession:XM_024453099
Location:EXON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN-AS1
Accession:NR_038272
Location:INTRON;NON-CODING

Gene Symbol:TTN-AS1
Accession:NR_038271
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000040279 CLINVAR
  RCV000260454 CLINVAR
  RCV000305182 CLINVAR
  RCV000316101 CLINVAR
  RCV000358832 CLINVAR
  RCV000359822 CLINVAR
  RCV000619432 CLINVAR
  RCV000714041 CLINVAR
  RCV001082040 CLINVAR
  RCV001798151 CLINVAR
dbSNP (RS) rs76081119 CLINVAR
MedGen C0878544 CLINVAR
  C1837342 CLINVAR
  C1838244 CLINVAR
  C1858763 CLINVAR
  C1863599 CLINVAR
  C2673677 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene TTN CLINVAR
  TTN-AS1 CLINVAR
OMIM 188840 CLINVAR
  600334 CLINVAR
  603689 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
  611705 CLINVAR
SNOMED CT 85898001 CLINVAR