RGD:405042140 Rat Genome Database

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Variant: RGD:405042140 -  Homo sapiens

RGD ID: 405042140
ClinVar ID: CV2870351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALK  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 29,448,431
GRCh38 2 29,225,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_488t1:c.3068T>G
NM_004304.5:c.3068T>G
LRG_488:g.701002T>G
NG_009445.1:g.701002T>G
More... 		01/03/2024 missense 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: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 RCV003518096 CLINVAR
MedGen C2751681 CLINVAR
NCBI Gene ALK CLINVAR
OMIM 105590 CLINVAR
  613014 CLINVAR