RGD:151853883 Rat Genome Database

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Variant: RGD:151853883 -  Homo sapiens

RGD ID: 151853883
RS ID: rs2151771890
ClinVar ID: CV1376383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 31,911,308
GRCh38 6 31,943,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145903.3:c.1171+4A>G
NM_001282458.2:c.1480+4A>G
NM_000063.6:c.1567+4A>G
NM_001282457.2:c.829+4A>G
More... 		06/12/2021 intron variant uncertain significance none provided

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

Gene Symbol:C2
Accession:NM_001282459
Location:INTRON

Gene Symbol:C2
Accession:NM_001282457
Location:INTRON

Gene Symbol:C2
Accession:NM_001145903
Location:INTRON

Gene Symbol:C2
Accession:NM_001282458
Location:INTRON

Gene Symbol:C2
Accession:NM_000063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001996298 CLINVAR
dbSNP (RS) rs2151771890 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 613927 CLINVAR