RGD:12740617 Rat Genome Database

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Variant: RGD:12740617 -  Homo sapiens

RGD ID: 12740617
RS ID: rs1057516318
ClinVar ID: CV357105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  TSPAN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 46,659,944
GRCh38 1 46,194,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001290130.2:c.450+2T>C
NC_000001.11:g.46194272A>G
NC_000001.10:g.46659944A>G
NM_017739.4:c.879+2T>C
More... 		12/14/2015 splice donor variant likely pathogenic infancy <1 / 1 000 000 Santavuori congenital muscular dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN1
Accession:XM_047420946
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420922
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_011540460
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420982
Location:INTRON

Gene Symbol:TSPAN1
Accession:NM_005727
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420887
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047421003
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000412480 CLINVAR
dbSNP (RS) rs1057516318 CLINVAR
MedGen C0457133 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613170 CLINVAR
SNOMED CT 277950001 CLINVAR