RGD:13789461 Rat Genome Database

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Variant: RGD:13789461 -  Homo sapiens

RGD ID: 13789461
RS ID: rs1553833239
ClinVar ID: CV543147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVC2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 5,624,720
GRCh38 4 5,622,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_147127.5:c.2047-2A>G
NM_147127.4:c.2047-2A>G
NG_015821.1:g.91556A>G
NC_000004.12:g.5622993T>C
More... 		06/08/2022 splice acceptor variant likely pathogenic 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:XM_047449610
Location:INTRON

Gene Symbol:EVC2
Accession:XM_017007738
Location:INTRON

Gene Symbol:EVC2
Accession:XM_017007736
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449612
Location:INTRON

Gene Symbol:EVC2
Accession:XM_047449611
Location:INTRON

Gene Symbol:EVC2
Accession:NM_001166136
Location:INTRON

Gene Symbol:EVC2
Accession:NM_147127
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17024374   PMID:19810119   PMID:19876929   PMID:20184732   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000666009 CLINVAR
  RCV000763527 CLINVAR
dbSNP (RS) rs1553833239 CLINVAR
MedGen C0013903 CLINVAR
NCBI Gene EVC2 CLINVAR
OMIM 193530 CLINVAR
  225500 CLINVAR
  607261 CLINVAR
SNOMED CT 62501005 CLINVAR