RGD:11656200 Rat Genome Database

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Variant: RGD:11656200 -  Homo sapiens

RGD ID: 11656200
RS ID: rs886060590
ClinVar ID: CV303756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDNF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 37,813,694
GRCh38 5 37,813,592
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011675.2:g.31089C>T
NC_000005.10:g.37813592G>A
NC_000005.9:g.37813694G>A
NM_000514.4:c.*2059C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Hirschsprung disease 3; Hirschsprung disease modifier
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDNF
Accession:NM_000514
Location:3UTRS;EXON

Gene Symbol:GDNF
Accession:NM_001190468
Location:3UTRS;EXON

Gene Symbol:GDNF
Accession:NM_199231
Location:3UTRS;EXON

Gene Symbol:GDNF
Accession:XM_017009337
Location:3UTRS;EXON

Gene Symbol:GDNF
Accession:NM_001190469
Location:3UTRS;EXON

Gene Symbol:GDNF
Accession:NM_001278098
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000331471 CLINVAR
dbSNP (RS) rs886060590 CLINVAR
MedGen C3150974 CLINVAR
NCBI Gene GDNF CLINVAR
OMIM 600837 CLINVAR
  613711 CLINVAR