chr12:48379358:G>A Detail (hg19) (COL2A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:48,379,358-48,379,358 |
hg38 | chr12:47,985,575-47,985,575 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001844.4:c.1693C>T | NP_001835.3:p.Arg565Cys |
NM_033150.2:c.1486C>T | NP_149162.2:p.Arg496Cys | |
Ensemble | ENST00000380518.8:c.1693C>T | ENST00000380518.8:p.Arg565Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-07-01 | criteria provided, multiple submitters, no conflicts | Stickler syndrome type 1 |
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Detail |
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2024-01-18 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-03-06 | criteria provided, single submitter | Retinal dystrophy |
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Detail |
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2016-01-01 | criteria provided, single submitter | achondrogenesis type II |
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Detail |
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2024-05-09 | criteria provided, multiple submitters, no conflicts | Stickler syndrome, type I, nonsyndromic ocular |
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Detail |
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2020-02-06 | criteria provided, single submitter | COL2A1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.483 | Stickler syndrome, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND Stickler syndrome type 1 | ClinVar | Detail |
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND not provided | ClinVar | Detail |
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND Retinal dystrophy | ClinVar | Detail |
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND Achondrogenesis type II | ClinVar | Detail |
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND Stickler syndrome, type I, nonsyndromic ocular | ClinVar | Detail |
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121912884 dbSNP
- Genome
- hg19
- Position
- chr12:48,379,358-48,379,358
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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