chr12:47976043:C>G Detail (hg38) (COL2A1)

Information

Genome

Assembly Position
hg19 chr12:48,369,826-48,369,826 View the variant detail on this assembly version.
hg38 chr12:47,976,043-47,976,043

HGVS

Type Transcript Protein
RefSeq NM_033150.2:c.3310G>C NP_149162.2:p.Gly1104Arg
NM_001844.4:c.3517G>C NP_001835.3:p.Gly1173Arg
Ensemble ENST00000337299.7:c.3310G>C ENST00000337299.7:p.Gly1104Arg
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 2000-01-31 no assertion criteria provided spondyloepiphyseal dysplasia congenita germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 spondyloepiphyseal dysplasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) AND Spondyloepiphyseal dysplasia congenita 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
rs121912883 dbSNP
Genome
hg38
Position
chr12:47,976,043-47,976,043
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser