RGD:126768137 Rat Genome Database

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Variant: RGD:126768137 -  Homo sapiens

RGD ID: 126768137
RS ID: rs1679303988
ClinVar ID: CV1024474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 29,940,566
GRCh38 2 29,717,700
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.668-3C>T
LRG_488:g.208867C>T
NG_009445.1:g.208867C>T
NC_000002.12:g.29717700G>A
More... 		08/20/2020 intron 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001343169 CLINVAR
dbSNP (RS) rs1679303988 CLINVAR
MedGen C2751681 CLINVAR
NCBI Gene ALK CLINVAR
OMIM 105590 CLINVAR
  613014 CLINVAR