RGD:11627301 Rat Genome Database

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Variant: RGD:11627301 -  Homo sapiens

RGD ID: 11627301
RS ID: rs778063005
ClinVar ID: CV351488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 33,669,615
GRCh38 22 33,273,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009929.2:g.651800G>A
NC_000022.11:g.33273629C>T
NC_000022.10:g.33669615C>T
NM_004737.4:c.*798G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6; MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:NM_001378630
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_133642
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_004737
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378626
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:3UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452303
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441604
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452302
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 Information

Database Acc Id Source(s)
ClinVar RCV000279989 CLINVAR
  RCV000342009 CLINVAR
dbSNP (RS) rs778063005 CLINVAR
MedGen C1837229 CLINVAR
  C3150414 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR
  608840 CLINVAR
  613154 CLINVAR