RGD:152099231 Rat Genome Database

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Variant: RGD:152099231 -  Homo sapiens

RGD ID: 152099231
RS ID: rs769198049
ClinVar ID: CV1650472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 31,911,602
GRCh38 6 31,943,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178063.3:c.1091+16G>C
NM_001145903.3:c.1337+16G>C
NM_001282458.2:c.1646+16G>C
NM_000063.6:c.1733+16G>C
More... 		09/17/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C2
Accession:NM_001145903
Location:INTRON

Gene Symbol:C2
Accession:NM_001282459
Location:INTRON

Gene Symbol:C2
Accession:NM_001282458
Location:INTRON

Gene Symbol:C2
Accession:NM_001282457
Location:INTRON

Gene Symbol:C2
Accession:NM_001178063
Location:INTRON

Gene Symbol:C2
Accession:NM_000063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002115103 CLINVAR
dbSNP (RS) rs769198049 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 613927 CLINVAR