chr12:48381051:C> Detail (hg19) (COL2A1)

Information

Genome

Assembly Position
hg19 chr12:48,381,051-48,381,051
hg38 chr12:47,987,268-47,987,268 

HGVS

Type Transcript Protein
RefSeq NM_001844.4:c.1266+1delG
NM_033150.2:c.1059+1delG
Ensemble ENST00000380518.8:c.1266+1delG
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 120140 OMIM
HGNC 2200 HGNC
Ensembl ENSG00000139219 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 1997-03-03 no assertion criteria provided Kniest dysplasia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 Kniest dysplasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001844.5(COL2A1):c.1266+1del AND Kniest dysplasia ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776847 dbSNP
Genome
hg19
Position
chr12:48,381,051-48,381,051
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser