RGD:152175167 Rat Genome Database

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Variant: RGD:152175167 -  Homo sapiens

RGD ID: 152175167
RS ID: rs2151757748
ClinVar ID: CV1520728
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  C2-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,903,692
GRCh38 6 31,935,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282457.2:c.112-8C>T
NM_001178063.3:c.347-1404C>T
NM_001145903.3:c.454-8C>T
NM_001282458.2:c.763-8C>T
More...
06/15/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C2
Accession:NM_001178063
Location:INTRON

Gene Symbol:C2
Accession:NM_000063
Location:INTRON

Gene Symbol:C2
Accession:NM_001145903
Location:INTRON

Gene Symbol:C2
Accession:NM_001282457
Location:INTRON

Gene Symbol:C2
Accession:NM_001282458
Location:INTRON

Gene Symbol:C2
Accession:NM_001282459
Location:INTRON

Gene Symbol:C2-AS1
Accession:NR_104191
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002184760 CLINVAR
dbSNP (RS) rs2151757748 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C2 CLINVAR
  C2-AS1 CLINVAR
OMIM 613927 CLINVAR