RGD:126738560 Rat Genome Database

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Variant: RGD:126738560 -  Homo sapiens

RGD ID: 126738560
RS ID: rs1204892970
ClinVar ID: CV999453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 33,780,173
GRCh38 22 33,384,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_856t2:c.1005+5G>A
NM_001362949.2:c.1005+5G>A
NM_001362953.2:c.1005+5G>A
NM_001378624.1:c.1005+5G>A
More... 		07/27/2020 intron variant uncertain significance MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:XM_047441604
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_133642
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378630
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452302
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452303
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_004737
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378626
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001295499 CLINVAR
dbSNP (RS) rs1204892970 CLINVAR
MedGen C1837229 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR
  608840 CLINVAR