RGD:13529789 Rat Genome Database

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Variant: RGD:13529789 -  Homo sapiens

RGD ID: 13529789
RS ID: rs201655250
ClinVar ID: CV505829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  LOC130057683  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 78,423,579
GRCh38 15 78,131,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.78131237C>T
NC_000015.9:g.78423579C>T
NG_033006.1:g.5299G>A
NM_001271889.2:c.-22G>A
More... 		10/12/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:NM_006383
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:NM_001271889
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:NM_001271888
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:XM_005254126
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:NM_001301224
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:XM_047432110
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:NR_125435
Location:EXON;NON-CODING

Gene Symbol:CIB2
Accession:XM_011521161
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000600443 CLINVAR
dbSNP (RS) rs201655250 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CIB2 CLINVAR
  LOC130057683 CLINVAR
OMIM 605564 CLINVAR