RGD:13532230 Rat Genome Database

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Variant: RGD:13532230 -  Homo sapiens

RGD ID: 13532230
RS ID: rs751564626
ClinVar ID: CV498512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMGNT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 46,664,025
GRCh38 1 46,198,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009205.2:g.26953G>A
NC_000001.11:g.46198353C>T
NC_000001.10:g.46664025C>T
NM_017739.4:c.-68G>A
More... 		11/09/2017 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

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

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

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:5UTRS;EXON

Gene Symbol:POMGNT1
Accession:NM_001410783
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:XM_017001690
Location:5UTRS;EXON

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

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

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000606731 CLINVAR
dbSNP (RS) rs751564626 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene POMGNT1 CLINVAR
OMIM 606822 CLINVAR