RGD:156198434 Rat Genome Database

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Variant: RGD:156198434 -  Homo sapiens

RGD ID: 156198434
ClinVar ID: CV2182681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  LOC130057683  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,423,501
GRCh38 15 78,131,159
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271888.2:c.-44+6C>G
NM_001271889.2:c.51+6C>G
NM_001301224.2:c.51+6C>G
NM_006383.4:c.51+6C>G
More... 		09/06/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:NM_001271888
Location:5UTRS;INTRON

Gene Symbol:CIB2
Accession:NM_006383
Location:INTRON

Gene Symbol:CIB2
Accession:NM_001271889
Location:INTRON

Gene Symbol:CIB2
Accession:XM_005254126
Location:INTRON

Gene Symbol:CIB2
Accession:NM_001301224
Location:INTRON

Gene Symbol:CIB2
Accession:XM_011521161
Location:INTRON

Gene Symbol:CIB2
Accession:XM_047432110
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV003024368 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CIB2 CLINVAR
  LOC130057683 CLINVAR
OMIM 605564 CLINVAR