RGD:13790231 Rat Genome Database

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Variant: RGD:13790231 -  Homo sapiens

RGD ID: 13790231
RS ID: rs1553837446
ClinVar ID: CV543448
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 5,633,760
GRCh38 4 5,632,033
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166136.2:c.1231-1G>C
NG_015821.1:g.82516G>C
NC_000004.12:g.5632033C>G
NG_015821.2:g.82515G>C
More... 		06/04/2018 splice acceptor variant likely pathogenic Chondroectodermal dysplasia; Mesoectodermal dysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EVC2
Accession:XM_017007738
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449612
Location:INTRON

Gene Symbol:EVC2
Accession:NM_147127
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449611
Location:INTRON

Gene Symbol:EVC2
Accession:XM_017007736
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449610
Location:INTRON

Gene Symbol:EVC2
Accession:NM_001166136
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000674937 CLINVAR
dbSNP (RS) rs1553837446 CLINVAR
MedGen C0013903 CLINVAR
NCBI Gene EVC2 CLINVAR
OMIM 225500 CLINVAR
  607261 CLINVAR
SNOMED CT 62501005 CLINVAR