RGD:152057489 Rat Genome Database

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Variant: RGD:152057489 -  Homo sapiens

RGD ID: 152057489
RS ID: rs2148301842
ClinVar ID: CV1635197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 29,606,744
GRCh38 2 29,383,878
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004304.5:c.1155-19T>C
LRG_488:g.542689T>C
NG_009445.1:g.542689T>C
NC_000002.12:g.29383878A>G
More... 		03/27/2021 intron variant likely benign 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:INTRON

Gene Symbol:ALK
Accession:NM_001353765
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002089879 CLINVAR
dbSNP (RS) rs2148301842 CLINVAR
MedGen C2751681 CLINVAR
NCBI Gene ALK CLINVAR
OMIM 105590 CLINVAR
  613014 CLINVAR