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 -
Variant_disease -
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     

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Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

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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 RCV000000354; RCV000041170; RCV000234084; RCV000246924; RCV000183674; RCV000208290; RCV000491470; RCV001170736;
Chromosome 1:78408441..78408441
Allele frequencies from ExAC 0.00010
ClinVar Allele ID 15365
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, Human Phenotype Ontology:HP:0001725, Human Phenotype Ontology:HP:0005159, Human Phenotype Ontology:HP:0200130, MONDO:MONDO:0005021, MeSH:D002311, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004, SNOMED CT:399020009|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:ORPHA167848, SNOMED CT:85898001|MONDO:MONDO:0013147, MedGen:C2751084, OMIM:613122|MONDO:MONDO:0013262, MedGen:C1834481, OMIM:613426|MONDO:MONDO:0013477, MedGen:C3151267, OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202
ClinVar preferred disease name Primary dilated cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1CC|Dilated cardiomyopathy 1S|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)| Uncertain significance(4)
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:

None