chr1:156137204:G>C Detail (hg38) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,995-156,106,995 View the variant detail on this assembly version. |
hg38 | chr1:156,137,204-156,137,204 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.1337G>C | NP_001269553.1:p.Arg446Pro |
NM_001282626.1:c.1580G>C | NP_001269555.1:p.Arg527Pro | |
NM_170707.3:c.1580G>C | NP_733821.1:p.Arg527Pro |
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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2009-01-01 | no assertion criteria provided | Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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criteria provided, single submitter | Familial partial lipodystrophy, Dunnigan type |
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Detail | |
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no assertion provided | not provided |
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Detail | |
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2023-07-10 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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2021-02-26 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
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2023-10-16 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.362 | Familial Partial Lipodystrophy, Type 2 | NA | CLINVAR | Detail | |
0.627 | progeria | The mutant constructs used included the laminopathy-inducing lamin A rod domain ... | BeFree | 16440304 | Detail |
0.485 | Mandibuloacral dysostosis | NA | CLINVAR | Detail | |
0.447 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | NA | CLINVAR | Detail | |
0.273 | Muscular Dystrophy, Emery-Dreifuss | NA | CLINVAR | Detail | |
0.008 | Acquired partial lipodystrophy | A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclea... | BeFree | 12913070 | Detail |
0.008 | Acquired partial lipodystrophy | Recently, affected patients from five consanguineous Italian pedigrees with part... | BeFree | 12788894 | Detail |
0.485 | Mandibuloacral dysostosis | Analysis of the effect of the prevalent MAD mutation (R527H) over the transcript... | BeFree | 15473259 | Detail |
0.026 | lipodystrophy | Affected patients from two pedigrees with type A lipodystrophy had the homozygou... | BeFree | 12788894 | Detail |
0.485 | Mandibuloacral dysostosis | Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing dise... | BeFree | 18604166 | Detail |
0.020 | Premature aging syndrome | Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing dise... | BeFree | 18604166 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... | ClinVar | Detail |
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Familial partial lipodystrophy, Dunnigan type | ClinVar | Detail |
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Cardiovascular phenotype | ClinVar | Detail |
NA | DisGeNET | Detail |
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins la... | DisGeNET | Detail |
Recently, affected patients from five consanguineous Italian pedigrees with partial lipodystrophy (t... | DisGeNET | Detail |
Analysis of the effect of the prevalent MAD mutation (R527H) over the transcriptional pattern of gen... | DisGeNET | Detail |
Affected patients from two pedigrees with type A lipodystrophy had the homozygous R527H mutation in ... | DisGeNET | Detail |
Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing disease caused by the ho... | DisGeNET | Detail |
Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing disease caused by the ho... | 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
- rs57520892 dbSNP
- Genome
- hg38
- Position
- chr1:156,137,204-156,137,204
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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