chr1:156105758:C>T Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,105,758-156,105,758 |
hg38 | chr1:156,135,967-156,135,967 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282626.1:c.1003C>T | NP_001269555.1:p.Arg335Trp |
NM_170707.3:c.1003C>T | NP_733821.1:p.Arg335Trp | |
NM_001257374.2:c.667C>T | NP_001244303.1:p.Arg223Trp |
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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2011-08-18 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
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2021-11-09 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-10-18 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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2021-03-16 | criteria provided, single submitter |
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Detail | |
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2022-03-11 | no assertion criteria provided | Heart-hand syndrome, Slovenian type |
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Detail |
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2018-04-06 | criteria provided, single submitter | Primary dilated cardiomyopathy,Laminopathy |
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Detail |
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2018-04-06 | criteria provided, single submitter | Primary dilated cardiomyopathy,Laminopathy |
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Detail |
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criteria provided, single submitter | left ventricular noncompaction |
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Detail | |
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2019-04-09 | criteria provided, single submitter | arrhythmogenic right ventricular cardiomyopathy |
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Detail |
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2019-09-24 | criteria provided, single submitter | dilated cardiomyopathy 1A |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-04 | criteria provided, single submitter | Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
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Detail |
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2022-04-25 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2023-12-11 | criteria provided, single submitter | Primary familial dilated cardiomyopathy |
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Detail |
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2023-04-17 | criteria provided, single submitter | LMNA-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.298 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail | |
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Cardiovascular phenotype | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Heart-hand syndrome, Slovenian type | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Left ventricular noncompaction | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Dilated cardiomyopathy 1A | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Primary familial dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND LMNA-related disorder | 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
- rs386134243 dbSNP
- Genome
- hg19
- Position
- chr1:156,105,758-156,105,758
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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