RGD:9682716 Rat Genome Database

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Variant: RGD:9682716 -  Homo sapiens

RGD ID: 9682716
RS ID: rs587783731
ClinVar ID: CV169757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 34,000,413
GRCh38 22 33,604,427
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.33604427G>A
NC_000022.10:g.34000413G>A
NG_009929.2:g.321002C>T
NM_004737.4:c.615+8C>T
More... 		07/02/2018 intron variant likely benign|uncertain significance MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:NM_001378626
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452303
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378630
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_004737
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452302
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_133642
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441604
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:INTRON

Gene Symbol:LARGE1
Accession:XR_007067993
Location:INTRON;NON-CODING

Gene Symbol:LARGE1
Accession:XR_002958722
Location:INTRON;NON-CODING

Gene Symbol:LARGE1
Accession:XR_007067994
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146261 CLINVAR
  RCV000873746 CLINVAR
  RCV001719917 CLINVAR
dbSNP (RS) rs587783731 CLINVAR
MedGen C0026850 CLINVAR
  C1837229 CLINVAR
  C3661900 CLINVAR
NCBI Gene LARGE CLINVAR
OMIM 603590 CLINVAR
  608840 CLINVAR