chr12:48380136:C>A Detail (hg19) (COL2A1)

Information

Genome

Assembly Position
hg19 chr12:48,380,136-48,380,136
hg38 chr12:47,986,353-47,986,353 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_033150.2:c.1303G>T NP_149162.2:p.Gly435Cys
NM_001844.4:c.1510G>T NP_001835.3:p.Gly504Cys
Ensemble ENST00000337299.7:c.1303G>T ENST00000337299.7:p.Gly435Cys
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 COSM166498 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-04-17 criteria provided, single submitter not provided germline Detail
Pathogenic 1995-09-01 no assertion criteria provided spondyloepimetaphyseal dysplasia, Strudwick type germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 spondyloepiphyseal dysplasia NA CLINVAR Detail
0.480 Strudwick syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) AND not provided ClinVar Detail
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) AND Spondyloepimetaphyseal dysplasia, Strudwick type ClinVar Detail
NA DisGeNET 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
rs121912880 dbSNP
Genome
hg19
Position
chr12:48,380,136-48,380,136
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser