View genomic variant #0000001836

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.78408441A>G
Published as -
GERP 5.840
Segregation -
DB-ID NEXN_000001
MSCV MSCV_0001836
dbSNP ID rs137853197
Frequency -
Sources ; clinvar;
Reference 20970104;19881492
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 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     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NEXN 00003266 NM_144573.3 0000001836 +/+ c.1955A>G p.(Tyr652Cys) missense_variant - 13/13 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000246924; RCV000000354; RCV000234084; RCV000491470; RCV000234084; RCV000208290; RCV000183674; RCV000041170;
Chromosome 1:78408441..78408441
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00010
ClinVar Allele ID 15365
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004|MedGen:C1834481, OMIM:613426|MedGen:C2751084, OMIM:613122|MedGen:C3151267, OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202
ClinVar preferred disease name Primary dilated cardiomyopathy|Dilated cardiomyopathy 1S|Dilated cardiomyopathy 1CC|Familial hypertrophic cardiomyopathy 20|not specified|Cardiovascular phenotype|not provided
HGVS variant names NC 000001.10:g.78408441A>G
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(4), Pathogenic(1), Uncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:613121.0002|UniProtKB (protein):Q0ZGT2#VAR 063011
Gene symbol:Gene id. NEXN:91624
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137853197
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
rs13785319717840844178408441A/GOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1CC
rs13785319717840844178408441A/GOMIM phenotype variantsDilated cardiomyopathy 1CC
rs13785319717840844178408441A/GOMIM phenotype variantsAllHighlyPenetrant
CM09774117840844178408441HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available