RGD:28910864 Rat Genome Database

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Variant: RGD:28910864 -  Homo sapiens

RGD ID: 28910864
RS ID: rs144954195
ClinVar ID: CV871525
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 78,549,658
GRCh38 13 77,975,523
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000115.5:c.-228C>T
NG_047191.1:g.11G>A
NG_011630.3:g.4201C>T
NC_000013.11:g.77975523G>A
More... 		01/13/2018 5 prime utr variant uncertain significance Hirschsprung disease 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDNRB
Accession:NM_000115
Location:5UTRS;EXON

Gene Symbol:EDNRB
Accession:NM_001201397
Location:INTRON

Gene Symbol:EDNRB
Accession:NM_003991
Location:INTRON

Gene Symbol:EDNRB
Accession:NM_001122659
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109547 CLINVAR
dbSNP (RS) rs144954195 CLINVAR
MedGen C1838564 CLINVAR
NCBI Gene EDNRB CLINVAR
OMIM 131244 CLINVAR
  600155 CLINVAR