RGD:405279577 Rat Genome Database

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Variant: RGD:405279577 -  Homo sapiens

RGD ID: 405279577
ClinVar ID: CV3206403
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPZ  LOC124900659  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 8,621,348
GRCh38 4 8,619,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001014447.3:c.*4C>T
NM_003652.4:c.*4C>T
NC_000004.12:g.8619621C>T
NC_000004.11:g.8621348C>T
More... 		11/01/2019 3 prime utr variant benign CPZ-related condition

Variant Details
Variant Transcripts
Gene Symbol:CPZ
Accession:NM_001014447
Location:3UTRS;EXON

Gene Symbol:CPZ
Accession:NM_003652
Location:3UTRS;EXON

Gene Symbol:CPZ
Accession:NM_001014448
Location:3UTRS;EXON

Gene Symbol:LOC124900659
Accession:XR_007058014
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003954945 CLINVAR
NCBI Gene CPZ CLINVAR
OMIM 603105 CLINVAR