Genomic variant #0000001601

Chromosome 1
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084760C>T
Published as -
GERP 2.890
Segregation -
DB-ID LMNA_000038
dbSNP ID rs11549668
Frequency -
Sources ; clinvar;
Reference 23757202
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00945 View details
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LMNA NM_170707.3 -/- c.51C>T p.(=) synonymous_variant - 1/10 - r.(=) -


ClinVar @ MSeqDR

0.0095
0.02399
0.0068
45141
EFO:EFO 0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202
Primary dilated cardiomyopathy|Hutchinson-Gilford syndrome|Familial partial lipodystrophy|Lethal tight skin contracture syndrome|Emery-Dreifuss muscular dystrophy|Congenital muscular dystrophy, LMNA-related|Charcot-Marie-Tooth disease, type 2|Mandibuloacral dysplasia|not specified|Cardiovascular phenotype|Charcot-Marie-Tooth, Type 2|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Dilated Cardiomyopathy, Dominant|Limb-Girdle Muscular Dystrophy, Recessive|not provided
HGVS variant names NC 000001.10:g.156084760C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:96155
Gene symbol:Gene id. LMNA:4000
SO:0001819|synonymous variant
1
dbSNP ID 11549668
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs115496681156084760156084760C/TT0.006PhenCodePrimary dilated cardiomyopathy
rs115496681156084760156084760C/TT0.006PhenCodeAllHighlyPenetrant