chr19:41848135:G>A Detail (hg19) (TGFB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:41,848,135-41,848,135 |
hg38 | chr19:41,342,230-41,342,230 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000660.5:c.652C>T | NP_000651.3:p.Arg218Cys |
Ensemble | ENST00000221930.6:c.652C>T | ENST00000221930.6:p.Arg218Cys |
ENST00000600196.2:c.652C>T | ENST00000600196.2:p.Arg218Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-05-28 | criteria provided, multiple submitters, no conflicts | Diaphyseal dysplasia |
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Detail |
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2023-12-09 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-12-21 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.490 | Camurati-Engelmann Syndrome | NA | CLINVAR | Detail | |
0.490 | Camurati-Engelmann Syndrome | Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R... | BeFree | 23729546 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND Diaphyseal dysplasia | ClinVar | Detail |
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND not provided | ClinVar | Detail |
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND See cases | ClinVar | Detail |
NA | DisGeNET | Detail |
Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of ch... | 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
- rs104894721 dbSNP
- Genome
- hg19
- Position
- chr19:41,848,135-41,848,135
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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