chr1:156108404:C>T Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,108,404-156,108,404 |
hg38 | chr1:156,138,613-156,138,613 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282626.1:c.1818+6C>T | |
NM_170707.3:c.1824C>T | NP_733821.1:p.Gly608= | |
NM_001257374.2:c.1488C>T | NP_001244303.1:p.Gly496= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-09-01 | criteria provided, multiple submitters, no conflicts | Hutchinson-Gilford syndrome |
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Detail |
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2021-05-26 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-02-15 | criteria provided, single submitter | Hutchinson-Gilford syndrome,Primary dilated cardiomyopathy |
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Detail |
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2018-02-15 | criteria provided, single submitter | Hutchinson-Gilford syndrome,Primary dilated cardiomyopathy |
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Detail |
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2023-10-08 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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2009-07-01 | no assertion criteria provided | restrictive dermopathy 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.485 | Mandibuloacral dysostosis | NA | CLINVAR | Detail | |
<0.001 | Dissecting aneurysm of the thoracic aorta | To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p.... | BeFree | 25090270 | Detail |
0.627 | progeria | A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a... | BeFree | 25216752 | Detail |
0.627 | progeria | In this study, we describe the development of a tissue-specific mouse model that... | BeFree | 22893709 | Detail |
0.627 | progeria | The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which acti... | BeFree | 22079058 | Detail |
<0.001 | Scaly skin | Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T,... | BeFree | 24305605 | Detail |
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail | |
0.360 | Lethal tight skin contracture syndrome (disorder) | NA | CLINVAR | Detail | |
0.627 | progeria | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Hutchinson-Gilford syndrome | ClinVar | Detail |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Restrictive dermopathy 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p.G608G, in the vascul... | DisGeNET | Detail |
A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of l... | DisGeNET | Detail |
In this study, we describe the development of a tissue-specific mouse model that overexpresses the m... | DisGeNET | Detail |
The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic spli... | DisGeNET | Detail |
Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during ski... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs58596362 dbSNP
- Genome
- hg19
- Position
- chr1:156,108,404-156,108,404
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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