RGD:11049654 Rat Genome Database

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Variant: RGD:11049654 -  Homo sapiens

RGD ID: 11049654
RS ID: rs370069759
ClinVar ID: CV225084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  TTN-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 179,407,385
GRCh38 2 178,542,658
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_391t1:c.97192+4A>G
NM_001267550.2:c.97192+4A>G
LRG_391:g.293145A>G
NG_011618.3:g.293145A>G
More...
08/02/2021 intron variant uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J; Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TTN
Accession:NM_003319
Location:INTRON

Gene Symbol:TTN
Accession:NM_133437
Location:INTRON

Gene Symbol:TTN
Accession:NM_133432
Location:INTRON

Gene Symbol:TTN
Accession:NM_133378
Location:INTRON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN
Accession:NM_001256850
Location:INTRON

Gene Symbol:TTN
Accession:NM_001267550
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004821
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004820
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004823
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004822
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004819
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453099
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453098
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453097
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453095
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453100
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445668
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445665
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445663
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445660
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445661
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:9536098   PMID:17576681   PMID:23975875   PMID:25589632   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000209317 CLINVAR
  RCV001853341 CLINVAR
  RCV002363049 CLINVAR
dbSNP (RS) rs370069759 CLINVAR
MedGen C0007193 CLINVAR
  C1858763 CLINVAR
  CN230736 CLINVAR
NCBI Gene LOC129935186 CLINVAR
  TTN CLINVAR
  TTN-AS1 CLINVAR
OMIM 188840 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
SNOMED CT 195021004 CLINVAR