chr12:48393802:G>T Detail (hg19) (COL2A1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr12:48,393,802-48,393,802
hg38	chr12:48,000,019-48,000,019 View the variant detail on this assembly version.

HGVS

COL2A1

Type	Transcript	Protein
RefSeq	NM_033150.2:c.86-1588C>A
	NM_001844.4:c.192C>A	NP_001835.3:p.Cys64Ter
Ensemble	ENST00000337299.7:c.86-1588C>A
	ENST00000380518.8:c.192C>A	ENST00000380518.8:p.Cys64Ter

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

COL2A1

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	2008-01-01	no assertion criteria provided	Stickler syndrome, type I, nonsyndromic ocular	germline	Detail
Pathogenic	2022-02-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-02-02	criteria provided, single submitter	Stickler syndrome type 1	germline	Detail
Pathogenic	2023-12-21	criteria provided, single submitter	COL2A1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	Stickler syndrome, type I, nonsyndromic ocular	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) AND Stickler syndrome, type I, nonsyndromic ocular	ClinVar	Detail
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) AND not provided	ClinVar	Detail
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) AND Stickler syndrome type 1	ClinVar	Detail
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) AND COL2A1-related disorder	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: rs121912897 dbSNP
Genome: hg19
Position: chr12:48,393,802-48,393,802
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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