RGD:11548109 Rat Genome Database

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Variant: RGD:11548109 -  Homo sapiens

RGD ID: 11548109
RS ID: rs2286343
ClinVar ID: CV251532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 5,747,072
GRCh38 4 5,745,345
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.39149C>T
NC_000004.12:g.5745345C>T
NC_000004.11:g.5747072C>T
NM_001306090.2:c.939+4C>T
More... 		07/30/2021 intron variant benign neonatal Acrofacial dysostosis of Weyers; AllHighlyPenetrant; Chondroectodermal dysplasia; Curry-Hall syndrome; Mesoectodermal dysplasia; WEYERS ACRODENTAL DYSOSTOSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EVC
Accession:XM_047449787
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449770
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449803
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449809
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449810
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449781
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449776
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449783
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449794
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449801
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449804
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449799
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449771
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449798
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449782
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449802
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449805
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449806
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449773
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449777
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449779
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449789
Location:INTRON

Gene Symbol:EVC
Accession:XM_017007883
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449769
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449786
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449780
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449775
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449788
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449774
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449795
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449793
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449800
Location:INTRON

Gene Symbol:EVC
Accession:NM_153717
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449790
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449791
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449797
Location:INTRON

Gene Symbol:EVC
Accession:XM_011513419
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449792
Location:INTRON

Gene Symbol:EVC
Accession:NM_001306092
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449772
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449796
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449807
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449778
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449784
Location:INTRON

Gene Symbol:EVC
Accession:NM_001306090
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449785
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449808
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248656 CLINVAR
  RCV000268637 CLINVAR
  RCV001515067 CLINVAR
  RCV001706402 CLINVAR
dbSNP (RS) rs2286343 CLINVAR
MedGen C0013903 CLINVAR
  C0457013 CLINVAR
  CN169374 CLINVAR
NCBI Gene EVC CLINVAR
OMIM 193530 CLINVAR
  225500 CLINVAR
  604831 CLINVAR
SNOMED CT 277807007 CLINVAR
  62501005 CLINVAR