chr12:48377504:G>A Detail (hg19) (COL2A1)

Information

Genome

Assembly Position
hg19 chr12:48,377,504-48,377,504
hg38 chr12:47,983,721-47,983,721 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_033150.2:c.1750C>T NP_149162.2:p.Arg584Ter
NM_001844.4:c.1957C>T NP_001835.3:p.Arg653Ter
Ensemble ENST00000337299.7:c.1750C>T ENST00000337299.7:p.Arg584Ter
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 COSM3384389 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-10 criteria provided, single submitter Stickler syndrome type 1 germline Detail
Pathogenic 2003-09-01 no assertion criteria provided Autosomal dominant rhegmatogenous retinal detachment germline Detail
Pathogenic 2023-12-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Namaqualand hip dysplasia,Platyspondylic dysplasia, Torrance type,spondyloepiphyseal dysplasia congenita,spondyloperipheral dysplasia,Stickler syndrome type 1,Legg-Calve-Perthes disease,Spondyloepiphyseal dysplasia, Stanescu type,Avascular necrosis of femoral head, primary, 1,achondrogenesis type II,Kniest dysplasia,Multiple epiphyseal dysplasia, Beighton type,Spondyloepiphyseal dysplasia with metatarsal shortening,spondylometaphyseal dysplasia,Stickler syndrome, type I, nonsyndromic ocular unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 Stickler syndrome, type 1 NA CLINVAR Detail
0.120 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND Stickler syndrome type 1 ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND Autosomal dominant rhegmatogenous retinal detachment ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND not provided ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions ClinVar Detail
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions 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
rs121912893 dbSNP
Genome
hg19
Position
chr12:48,377,504-48,377,504
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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