RGD:11612578 Rat Genome Database

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Variant: RGD:11612578 -  Homo sapiens

RGD ID: 11612578
RS ID: rs780042144
ClinVar ID: CV338959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRAPPC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 13,732,132
GRCh38 X 13,714,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014563.6:c.*394T>C
NG_011555.1:g.25611T>C
NC_000023.11:g.13714013A>G
NC_000023.10:g.13732132A>G
More... 		01/13/2018 3 prime utr variant benign|likely benign SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRAPPC2
Accession:XM_011545566
Location:3UTRS;EXON

Gene Symbol:TRAPPC2
Accession:XM_047442352
Location:3UTRS;EXON

Gene Symbol:TRAPPC2
Accession:NM_001011658
Location:3UTRS;EXON

Gene Symbol:TRAPPC2
Accession:XM_047442351
Location:3UTRS;EXON

Gene Symbol:TRAPPC2
Accession:NM_014563
Location:3UTRS;EXON

Gene Symbol:TRAPPC2
Accession:NM_001128835
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260807 CLINVAR
dbSNP (RS) rs780042144 CLINVAR
MedGen CN033239 CLINVAR
NCBI Gene TRAPPC2 CLINVAR
OMIM 300202 CLINVAR
  313400 CLINVAR
SNOMED CT 51952004 CLINVAR