RGD:13527783 Rat Genome Database

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Variant: RGD:13527783 -  Homo sapiens

RGD ID: 13527783
RS ID: rs1475010799
ClinVar ID: CV498739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  TSPAN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 46,660,497
GRCh38 1 46,194,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.46194825T>C
NC_000001.10:g.46660497T>C
NG_009205.2:g.30481A>G
LRG_701t1:c.652+19A>G
More... 		02/27/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_011540460
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420887
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420946
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001243766
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047421003
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420982
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:TSPAN1
Accession:NM_005727
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:TSPAN1
Accession:XM_047420922
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000599875 CLINVAR
dbSNP (RS) rs1475010799 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613170 CLINVAR