RGD:15131420 Rat Genome Database

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Variant: RGD:15131420 -  Homo sapiens

RGD ID: 15131420
RS ID: rs375913574
ClinVar ID: CV695054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  TSPAN1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 46,660,640
GRCh38 1 46,194,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290130.2:c.106-7C>G
NM_001290129.2:c.469-7C>G
NC_000001.10:g.46660640G>C
NG_009205.3:g.30338C>G
More... 		08/15/2020 intron variant likely benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_011540460
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:TSPAN1
Accession:NM_005727
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420922
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:TSPAN1
Accession:XM_047420982
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047421003
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420946
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420887
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001421538 CLINVAR
dbSNP (RS) rs375913574 CLINVAR
MedGen C3150417 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR