chr2:29213994:A>C Detail (hg38) (ALK)

Information

Genome

Assembly Position
hg19 chr2:29,436,860-29,436,860 View the variant detail on this assembly version.
hg38 chr2:29,213,994-29,213,994

HGVS

Type Transcript Protein
RefSeq NM_004304.4:c.3733T>G NP_004295.2:p.Phe1245Val
Ensemble ENST00000389048.8:c.3733T>G ENST00000389048.8:p.Phe1245Val
ENST00000618119.4:c.2602T>G ENST00000618119.4:p.Phe868Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 105590 OMIM
HGNC 427 HGNC
Ensembl ENSG00000171094 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM28499 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Neuroblastoma, susceptibility to, 3 germline Detail
Pathogenic 2014-10-02 no assertion criteria provided neuroblastoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
neuroblastoma Entrectinib C Predictive Supports Sensitivity/Response Somatic 3 28183697 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Neuroblastoma, susceptibility to, 3 NA CLINVAR Detail
0.023 Central neuroblastoma A syndromic presentation associating congenital neuroblastoma with severe enceph... BeFree 24811761 Detail
0.279 neuroblastoma A syndromic presentation associating congenital neuroblastoma with severe enceph... BeFree 24811761 Detail
Annotation

Annotations

DescrptionSourceLinks
Clinical trial of entrectinib in patients with ALK/ROS/TRK altered tumors. One patient with an ALK F... CIViC Evidence Detail
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) AND Neuroblastoma, susceptibility to, 3 ClinVar Detail
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) AND Neuroblastoma ClinVar Detail
NA DisGeNET Detail
A syndromic presentation associating congenital neuroblastoma with severe encephalopathy and an abno... DisGeNET Detail
A syndromic presentation associating congenital neuroblastoma with severe encephalopathy and an abno... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281864720 dbSNP
Genome
hg38
Position
chr2:29,213,994-29,213,994
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
F1245V
Transcript 1 (CIViC Variant)
ENST00000389048.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1295
Genome browser