RGD:11586287 Rat Genome Database

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Variant: RGD:11586287 -  Homo sapiens

RGD ID: 11586287
RS ID: rs4261923
ClinVar ID: CV299044
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 5,815,032
GRCh38 4 5,813,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008843.1:g.107109G>A
NC_000004.12:g.5813305G>A
NC_000004.11:g.5815032G>A
NM_001306090.2:c.*2268G>A
More... 		06/14/2016 3 prime utr variant benign neonatal Chondroectodermal dysplasia; Mesoectodermal dysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EVC
Accession:XM_047449777
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449785
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449770
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449781
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449791
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449794
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449807
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449804
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449773
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449780
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449782
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449799
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449801
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:NM_153717
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449769
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449795
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449772
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449787
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449790
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449798
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449771
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449783
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449806
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449788
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449802
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449810
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449779
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:NM_001306090
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449796
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449792
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449803
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449784
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449797
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449793
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449775
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449800
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449805
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449808
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449774
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449778
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449776
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449786
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:XM_047449789
Location:3UTRS;EXON

Gene Symbol:EVC
Accession:NM_001306092
Location:INTRON

Gene Symbol:EVC
Accession:XM_017007883
Location:INTRON

Gene Symbol:EVC
Accession:XM_011513419
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449809
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341423 CLINVAR
dbSNP (RS) rs4261923 CLINVAR
MedGen C0013903 CLINVAR
NCBI Gene EVC CLINVAR
OMIM 225500 CLINVAR
  604831 CLINVAR
SNOMED CT 62501005 CLINVAR