chr22:29130661:C>A Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,130,661-29,130,661
hg38 chr22:28,734,673-28,734,673 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.49G>T NP_001244316.1:p.Ala17Ser
NM_145862.2:c.49G>T NP_665861.1:p.Ala17Ser
NM_001005735.1:c.49G>T NP_001005735.1:p.Ala17Ser
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 604373 OMIM
HGNC 16627 HGNC
Ensembl ENSG00000183765 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-01-01 no assertion criteria provided bone osteosarcoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.363 osteosarcoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) AND Bone osteosarcoma 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
rs137853008 dbSNP
Genome
hg19
Position
chr22:29,130,661-29,130,661
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser