RGD:8609850 Rat Genome Database

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Variant: RGD:8609850 -  Homo sapiens

RGD ID: 8609850
RS ID: rs72677222
ClinVar ID: CV56145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126806427  TTN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 179,486,478
GRCh38 2 178,621,751
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_391:g.214052A>G
NG_011618.3:g.214052A>G
NC_000002.12:g.178621751T>C
c.37379-10A>G
More... 		12/31/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters 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_024453095
Location:INTRON

Gene Symbol:TTN
Accession:NM_133432
Location:INTRON

Gene Symbol:TTN
Accession:NM_133378
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453099
Location:INTRON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN
Accession:NM_001256850
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445668
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004823
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004822
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453097
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445665
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445661
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004819
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453100
Location:INTRON

Gene Symbol:TTN
Accession:NM_003319
Location:INTRON

Gene Symbol:TTN
Accession:NM_001267550
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445663
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004820
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453098
Location:INTRON

Gene Symbol:TTN
Accession:NM_133437
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445660
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004821
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000040250 CLINVAR
  RCV000206822 CLINVAR
  RCV000303710 CLINVAR
  RCV000308610 CLINVAR
  RCV000343801 CLINVAR
  RCV000347154 CLINVAR
  RCV000407700 CLINVAR
  RCV000770036 CLINVAR
  RCV001529823 CLINVAR
dbSNP (RS) rs72677222 CLINVAR
MedGen C0878544 CLINVAR
  C1837342 CLINVAR
  C1838244 CLINVAR
  C1858763 CLINVAR
  C1863599 CLINVAR
  C2673677 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126806427 CLINVAR
  TTN CLINVAR
OMIM 188840 CLINVAR
  600334 CLINVAR
  603689 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
  611705 CLINVAR
SNOMED CT 85898001 CLINVAR