RGD:13829971 Rat Genome Database

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Variant: RGD:13829971 -  Homo sapiens

RGD ID: 13829971
RS ID: rs769035762
ClinVar ID: CV580609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 14,034,356
GRCh38 19 13,923,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.13923543C>T
NG_013089.1:g.22401C>T
NC_000019.9:g.14034356C>T
NM_017721.5:c.1765-5C>T
More... 		08/04/2016 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CC2D1A
Accession:XM_047439014
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439016
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439019
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439015
Location:INTRON

Gene Symbol:CC2D1A
Accession:NM_001411138
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439012
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439020
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439017
Location:INTRON

Gene Symbol:CC2D1A
Accession:NM_017721
Location:INTRON

Gene Symbol:CC2D1A
Accession:XM_047439018
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002318764 CLINVAR
dbSNP (RS) rs769035762 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CC2D1A CLINVAR
OMIM 610055 CLINVAR