RGD:12847328 Rat Genome Database

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Variant: RGD:12847328 -  Homo sapiens

RGD ID: 12847328
RS ID: rs375713516
ClinVar ID: CV378968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUL4B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,691,776
GRCh38 X 120,557,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009388.1:g.22909A>G
NC_000023.11:g.120557921T>C
NC_000023.10:g.119691776T>C
NM_001369145.1:c.138+3A>G
More... 		07/05/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CUL4B
Accession:NM_001330624
Location:INTRON

Gene Symbol:CUL4B
Accession:NM_001369145
Location:INTRON

Gene Symbol:CUL4B
Accession:NM_001079872
Location:INTRON

Gene Symbol:CUL4B
Accession:NM_003588
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000443291 CLINVAR
dbSNP (RS) rs375713516 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CUL4B CLINVAR
OMIM 300304 CLINVAR