RGD:28884911 Rat Genome Database

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Variant: RGD:28884911 -  Homo sapiens

RGD ID: 28884911
RS ID: rs927602645
ClinVar ID: CV864539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 46,664,021
GRCh38 1 46,198,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_701t1:c.-50-478G>A
NM_001243766.2:c.-50-478G>A
LRG_701:g.26957G>A
NC_000001.10:g.46664021C>T
More... 		01/12/2018 5 prime utr variant uncertain significance Limb-Girdle Muscular Dystrophy Type 3C; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:XM_047424511
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:5UTRS;INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097961 CLINVAR
  RCV001097962 CLINVAR
dbSNP (RS) rs927602645 CLINVAR
MedGen C3150417 CLINVAR
  CN239202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
OMIM 606822 CLINVAR
  613157 CLINVAR