RGD:405030454 Rat Genome Database

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Variant: RGD:405030454 -  Homo sapiens

RGD ID: 405030454
ClinVar ID: CV3095827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 5,735,174
GRCh38 4 5,733,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306090.2:c.702+12T>C
NM_001306092.2:c.702+12T>C
NM_153717.3:c.702+12T>C
NG_008843.2:g.27248T>C
More... 		01/29/2024 intron variant likely benign Acrofacial dysostosis of Weyers; 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:NM_153717
Location:INTRON

Gene Symbol:EVC
Accession:XM_011513419
Location:INTRON

Gene Symbol:EVC
Accession:NM_001306090
Location:INTRON

Gene Symbol:EVC
Accession:NM_001306092
Location:INTRON

Gene Symbol:EVC
Accession:XM_017007883
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449774
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449769
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449778
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449773
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449786
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449781
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449777
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449776
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449780
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449779
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449785
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449795
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449775
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449771
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449784
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449772
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449787
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449792
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449789
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449790
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449798
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449796
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449770
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449783
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449782
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449788
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449791
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449797
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449793
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449794
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449799
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449800
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449801
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449807
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449804
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449803
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_047449808
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449809
Location:INTRON

Gene Symbol:EVC
Accession:XM_047449810
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003796324 CLINVAR
MedGen C0013903 CLINVAR
NCBI Gene EVC CLINVAR
OMIM 193530 CLINVAR
  225500 CLINVAR
  604831 CLINVAR
SNOMED CT 62501005 CLINVAR