chr1:156137756:C>T Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,107,547-156,107,547 View the variant detail on this assembly version.
hg38 chr1:156,137,756-156,137,756

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1468C>T NP_001269553.1:p.Arg490Cys
NM_001282626.1:c.1698+13C>T
NM_170707.3:c.1698+13C>T
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 Uncertain significance
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 2020-03-04 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Uncertain significance no assertion criteria provided Charcot-Marie-Tooth disease germline Detail
Uncertain significance 2023-04-28 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2022-08-30 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Hutchinson-Gilford syndrome,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,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,Charcot-Marie-Tooth disease type 2B1 unknown Detail
Uncertain significance 2023-11-30 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND not provided ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND Cardiomyopathy ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND multiple conditions ClinVar Detail
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) AND Primary dilated cardiomyopathy ClinVar Detail
NA 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
rs80338938 dbSNP
Genome
hg38
Position
chr1:156,137,756-156,137,756
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
652
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)
17606
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.6798818584573444E-5
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