chr1:156137233:G>A Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,107,024-156,107,024 View the variant detail on this assembly version.
hg38 chr1:156,137,233-156,137,233

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1365+1G>A
NM_001282626.1:c.1608+1G>A
NM_170707.3:c.1608+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
not provided no assertion provided not provided not provided Detail
Pathogenic 2014-09-10 criteria provided, single submitter neuromuscular disease germline Detail
Pathogenic 2023-08-24 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2019-03-01 criteria provided, single submitter dilated cardiomyopathy 1A unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2022-05-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1608+1G>A AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND Neuromuscular disease ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607592 dbSNP
Genome
hg38
Position
chr1:156,137,233-156,137,233
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser