chr1:156104681:C>T Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,681-156,104,681
hg38 chr1:156,134,890-156,134,890 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.725C>T NP_001269555.1:p.Ala242Val
NM_170707.3:c.725C>T NP_733821.1:p.Ala242Val
NM_001257374.2:c.389C>T NP_001244303.1:p.Ala130Val
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
Likely pathogenic 2016-02-03 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Likely pathogenic 2014-11-27 no assertion criteria provided arrhythmogenic right ventricular cardiomyopathy germline Detail
Likely pathogenic 2023-07-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-05-31 criteria provided, single submitter germline Detail
Likely pathogenic 2020-12-28 criteria provided, single submitter Primary familial dilated cardiomyopathy germline Detail
Likely pathogenic 2023-05-08 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance criteria provided, single submitter Charcot-Marie-Tooth disease germline Detail
Likely pathogenic 2019-12-17 criteria provided, single submitter dilated cardiomyopathy 1A germline Detail
Uncertain significance 2020-05-06 criteria provided, single submitter cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Arrhythmogenic Right Ventricular Dysplasia NA CLINVAR Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Primary familial dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) AND Cardiomyopathy 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397517906 dbSNP
Genome
hg19
Position
chr1:156,104,681-156,104,681
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121248
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)
8.247558722618106E-6
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