Genomic variant #0000001606

Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084975G>T
Published as -
GERP 3.870
Segregation -
DB-ID LMNA_000043
dbSNP ID rs59040894
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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.266G>T p.(Arg89Leu) missense_variant - 1/10 probably_damaging(1) r.(?) deleterious(0)


ClinVar @ MSeqDR

57223
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.156084975G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
dbSNP ID 59040894
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

77781
MedGen:CN043576|MedGen:CN517202
Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.156084975G>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P02545#VAR 039758
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
dbSNP ID 59040894
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
rs590408941156084975156084975G/TUniprot phenotype variantsCardiomyopathy dilated type 1A
rs590408941156084975156084975G/TUniprot phenotype variantsCardiomyopathy, dilated 1A
CM0330861156084975156084975HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available