View genomic variant #0000001601

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) 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
MSCV MSCV_0001601
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

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PolyPhen     

RNA change     

SIFT     
LMNA 00003231 NM_170707.3 0000001601 -/- c.51C>T p.(=) synonymous_variant - 1/10 - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000246550; RCV000204379; RCV000296686; RCV000351657; RCV000325847; RCV000355480; RCV000385116; RCV000290770; RCV000285289; RCV000265426; RCV000320485; RCV000350387; RCV000030151; RCV000057414; RCV000041354;
Chromosome 1:156084760..156084760
Allele frequencies from ESP 0.0095
Allele frequencies from ExAC 0.02399
Allele frequencies from TGP 0.0068
ClinVar Allele ID 45141
Disease database name and identifier 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
ClinVar preferred disease name 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
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:96155
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 11549668
Variant Flags
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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