chr1:156106998:C>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,998-156,106,998 |
hg38 | chr1:156,137,207-156,137,207 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001257374.2:c.1247C>A | NP_001244303.1:p.Thr416Lys |
NM_170707.3:c.1583C>A | NP_733821.1:p.Thr528Lys | |
NM_001282626.1:c.1583C>A | NP_001269555.1:p.Thr528Lys |
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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2023-01-04 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-06-26 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2019-05-28 | criteria provided, single submitter | Hutchinson-Gilford syndrome |
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Detail |
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2023-10-14 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.485 | Mandibuloacral dysostosis | NA | CLINVAR | Detail | |
0.447 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... | ClinVar | Detail |
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Hutchinson-Gilford syndrome | ClinVar | Detail |
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Charcot-Marie-Tooth disease type 2 | ClinVar | 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 |
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- Gene
- -
- dbSNP
- rs57629361 dbSNP
- Genome
- hg19
- Position
- chr1:156,106,998-156,106,998
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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