chr12:47975971:C>T Detail (hg38) (COL2A1)

Information

Genome

Assembly Position
hg19 chr12:48,369,754-48,369,754 View the variant detail on this assembly version.
hg38 chr12:47,975,971-47,975,971

HGVS

Type Transcript Protein
RefSeq NM_033150.2:c.3382G>A NP_149162.2:p.Gly1128Ser
NM_001844.4:c.3589G>A NP_001835.3:p.Gly1197Ser
Ensemble ENST00000337299.7:c.3382G>A ENST00000337299.7:p.Gly1128Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 criteria provided, single submitter spondyloepiphyseal dysplasia congenita germline Detail
Pathogenic Likely pathogenic 2023-07-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-10-01 criteria provided, single submitter spondyloepimetaphyseal dysplasia, Strudwick type unknown Detail
Pathogenic Likely pathogenic 2022-05-04 criteria provided, multiple submitters, no conflicts Stickler syndrome type 1 germline Detail
Pathogenic 2022-02-02 criteria provided, single submitter Namaqualand hip dysplasia germline Detail
Pathogenic 2020-02-01 criteria provided, single submitter Connective tissue disorder germline Detail
Pathogenic 2023-02-23 criteria provided, single submitter spondyloperipheral dysplasia unknown Detail
Pathogenic 2023-07-01 criteria provided, single submitter Type 2 collagenopathy 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.3589G>A (p.Gly1197Ser) AND Spondyloepiphyseal dysplasia congenita ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND not provided ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Spondyloepimetaphyseal dysplasia, Strudwick type ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Stickler syndrome type 1 ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Namaqualand hip dysplasia ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Connective tissue disorder ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Spondyloperipheral dysplasia ClinVar Detail
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Type 2 collagenopathy 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
rs121912870 dbSNP
Genome
hg38
Position
chr12:47,975,971-47,975,971
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser