RGD:11582952 Rat Genome Database

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Variant: RGD:11582952 -  Homo sapiens

RGD ID: 11582952
RS ID: rs547587734
ClinVar ID: CV289079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 30,144,276
GRCh38 2 29,921,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_488:g.5157C>T
NG_009445.1:g.5157C>T
NC_000002.12:g.29921410G>A
NC_000002.11:g.30144276G>A
More... 		06/14/2016 5 prime utr variant uncertain significance ALK-Related Neuroblastoma Susceptibility; Neuroblastoma 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALK
Accession:NM_004304
Location:5UTRS;EXON

Gene Symbol:ALK
Accession:XR_001738688
Location:EXON;NON-CODING

Gene Symbol:ALK
Accession:NM_001353765
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263166 CLINVAR
dbSNP (RS) rs547587734 CLINVAR
MedGen C2751681 CLINVAR
NCBI Gene ALK CLINVAR
OMIM 105590 CLINVAR
  613014 CLINVAR