RGD:11665285 Rat Genome Database

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Variant: RGD:11665285 -  Homo sapiens

RGD ID: 11665285
RS ID: rs188508515
ClinVar ID: CV295174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC2  LOC127400021  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 5,710,259
GRCh38 4 5,708,532
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.2336A>G
NG_015821.1:g.6017T>C
NC_000004.12:g.5708532A>G
NC_000004.11:g.5710259A>G
More... 		02/05/2018 5 prime utr variant benign|likely benign neonatal Acrofacial dysostosis of Weyers; AllHighlyPenetrant; Chondroectodermal dysplasia; Mesoectodermal dysplasia; WEYERS ACRODENTAL DYSOSTOSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EVC2
Accession:XM_047449612
Location:5UTRS;EXON

Gene Symbol:EVC2
Accession:XM_017007738
Location:5UTRS;EXON

Gene Symbol:EVC2
Accession:NM_147127
Location:5UTRS;EXON

Gene Symbol:EVC2
Accession:XM_017007736
Location:5UTRS;INTRON

Gene Symbol:EVC2
Accession:NM_001166136
Location:5UTRS;INTRON

Gene Symbol:EVC2
Accession:XM_047449610
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449611
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263421 CLINVAR
  RCV000341424 CLINVAR
  RCV000597121 CLINVAR
dbSNP (RS) rs188508515 CLINVAR
MedGen C0013903 CLINVAR
  C0457013 CLINVAR
  CN169374 CLINVAR
NCBI Gene EVC CLINVAR
  EVC2 CLINVAR
OMIM 193530 CLINVAR
  225500 CLINVAR
  604831 CLINVAR
  607261 CLINVAR
SNOMED CT 277807007 CLINVAR
  62501005 CLINVAR