chr1:156105731:T>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,105,731-156,105,731
hg38 chr1:156,135,940-156,135,940 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.733T>A NP_001269553.1:p.Ser245Thr
NM_001282625.1:c.976T>A NP_001269554.1:p.Ser326Thr
NM_005572.3:c.976T>A NP_005563.1:p.Ser326Thr
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 2023-06-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
no classifications from unflagged records 2023-10-16 no classifications from unflagged records Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2023-07-31 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2024-01-11 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance 2022-08-24 criteria provided, single submitter germline Detail
Uncertain significance 2024-02-02 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1A germline unknown Detail
Uncertain significance 2022-12-15 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2023-12-18 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_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND not specified ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) 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
rs56851164 dbSNP
Genome
hg19
Position
chr1:156,105,731-156,105,731
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8562
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)
117572
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.953798523457966E-5
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