RGD:28892083 Rat Genome Database

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Variant: RGD:28892083 -  Homo sapiens

RGD ID: 28892083
RS ID: rs371526145
ClinVar ID: CV895981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 5,690,871
GRCh38 4 5,689,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015821.1:g.25405C>T
NC_000004.12:g.5689144G>A
NC_000004.11:g.5690871G>A
NM_147127.4:c.706+13C>T
More... 		12/16/2021 intron variant likely benign|uncertain significance 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:EVC2
Accession:NM_001166136
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_017007738
Location:INTRON

Gene Symbol:EVC2
Accession:XM_017007736
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449610
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001153034 CLINVAR
  RCV002070863 CLINVAR
dbSNP (RS) rs371526145 CLINVAR
MedGen C0013903 CLINVAR
NCBI Gene EVC2 CLINVAR
OMIM 193530 CLINVAR
  225500 CLINVAR
  607261 CLINVAR
SNOMED CT 62501005 CLINVAR