chr2:29432739:A>G Detail (hg19) (ALK)

Information

Genome

Assembly Position
hg19 chr2:29,432,739-29,432,739
hg38 chr2:29,209,873-29,209,873 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004304.4:c.3749T>C NP_004295.2:p.Ile1250Thr
Ensemble ENST00000389048.8:c.3749T>C ENST00000389048.8:p.Ile1250Thr
ENST00000618119.4:c.2618T>C ENST00000618119.4:p.Ile873Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv6297301 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-07-06 criteria provided, single submitter Neuroblastoma, susceptibility to, 3 germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided neuroblastoma somatic Detail
Uncertain significance 2023-09-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Neuroblastoma, susceptibility to, 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Neuroblastoma, susceptibility to, 3 ClinVar Detail
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Neuroblastoma ClinVar Detail
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA 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
rs113994092 dbSNP
Genome
hg19
Position
chr2:29,432,739-29,432,739
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser