chr1:156108331:G>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,108,331-156,108,331
hg38 chr1:156,138,540-156,138,540 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.1751G>A NP_001269555.1:p.Arg584His
NM_170707.3:c.1751G>A NP_733821.1:p.Arg584His
NM_001257374.2:c.1415G>A NP_001244303.1:p.Arg472His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 150330 OMIM
HGNC 6636 HGNC
Ensembl ENSG00000160789 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-06-28 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2023-08-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2024-01-31 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance 2018-12-10 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2021-10-19 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2021-12-13 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Heart-hand syndrome, Slovenian type,dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,congenital muscular dystrophy due to LMNA mutation,Mandibuloacral dysplasia with type A lipodystrophy,restrictive dermopathy 2 unknown Detail
Uncertain significance 2022-11-01 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Acquired partial lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
0.026 lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND not specified ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) AND Cardiovascular phenotype ClinVar Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... DisGeNET Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... 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
rs56657623 dbSNP
Genome
hg19
Position
chr1:156,108,331-156,108,331
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8214
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
107500
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.7209302325581394E-5
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