RGD:40904549 Rat Genome Database

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Variant: RGD:40904549 -  Homo sapiens

RGD ID: 40904549
RS ID: rs558052679
ClinVar ID: CV977548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 46,662,762
GRCh38 1 46,197,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243766.2:c.121-6C>T
NC_000001.10:g.46662762G>A
NM_001290130.2:c.-305-10C>T
NM_001290129.2:c.55-6C>T
More... 		09/15/2020 intron variant likely benign|uncertain significance Limb-Girdle Muscular Dystrophy Type 3C; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED; Santavuori congenital muscular dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:NM_001290130
Location:5UTRS;INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001277599 CLINVAR
  RCV001499781 CLINVAR
dbSNP (RS) rs558052679 CLINVAR
MedGen C0457133 CLINVAR
  C3150417 CLINVAR
NCBI Gene POMGNT1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
SNOMED CT 277950001 CLINVAR