RGD:8609983 Rat Genome Database

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Variant: RGD:8609983 -  Homo sapiens

RGD ID: 8609983
RS ID: rs397517624
ClinVar ID: CV56278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  TTN-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 179,463,872
GRCh38 2 178,599,145
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.236658G>A
NG_011618.3:g.236658G>A
NC_000002.12:g.178599145C>T
NC_000002.11:g.179463872C>T
More... 		11/15/2019 intron|intron variant|splice donor variant|splice-5 likely pathogenic all ages|variable 1-5 / 10 000|1-9 / 100 000 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_133432
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453100
Location:INTRON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN
Accession:NM_001267550
Location:INTRON

Gene Symbol:TTN
Accession:NM_133437
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004819
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445668
Location:INTRON

Gene Symbol:TTN
Accession:NM_003319
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004820
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453099
Location:INTRON

Gene Symbol:TTN
Accession:NM_001256850
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453098
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445665
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453097
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445660
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445661
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004823
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453095
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004821
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004822
Location:INTRON

Gene Symbol:TTN
Accession:NM_133378
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445663
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:23975875   PMID:24033266   PMID:25589632   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000040383 CLINVAR
  RCV001230770 CLINVAR
dbSNP (RS) rs397517624 CLINVAR
MedGen C0007193 CLINVAR
  C1858763 CLINVAR
NCBI Gene TTN CLINVAR
  TTN-AS1 CLINVAR
OMIM 188840 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
SNOMED CT 195021004 CLINVAR