RGD:11644559 Rat Genome Database

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Variant: RGD:11644559 -  Homo sapiens

RGD ID: 11644559
RS ID: rs886048423
ClinVar ID: CV327116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821165  SDHAF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 61,214,196
GRCh38 11 61,446,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_017841.2:c.*653A>G
LRG_519t1:c.*653A>G
LRG_519:g.21600A>G
NG_023393.1:g.21600A>G
More... 		06/14/2016 3 prime utr variant uncertain significance childhood 1-9 / 1 000 000 Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Medullary paraganglioma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHAF2
Accession:NM_017841
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260795 CLINVAR
dbSNP (RS) rs886048423 CLINVAR
MedGen C0031511 CLINVAR
NCBI Gene SDHAF2 CLINVAR
OMIM 171300 CLINVAR
  613019 CLINVAR