View genomic variant #0000001835

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.78408317C>A
Published as -
GERP 5.840
Segregation -
DB-ID NEXN_000002
MSCV MSCV_0001835
dbSNP ID rs137853198
Frequency -
Sources ; clinvar;
Reference 19881492
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000001835 +/+ c.1831C>A p.(Pro611Thr) missense_variant - 13/13 probably_damaging(0.994) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000000355;
Chromosome 1:78408317..78408317
ClinVar Allele ID 15366
Disease database name and identifier MedGen:C2751084, OMIM:613122
ClinVar preferred disease name Dilated cardiomyopathy 1CC
HGVS variant names NC 000001.10:g.78408317C>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:613121.0003|UniProtKB (protein):Q0ZGT2#VAR 063009
Gene symbol:Gene id. NEXN:91624
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137853198
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
rs13785319817840831778408317C/AOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1CC
rs13785319817840831778408317C/AOMIM phenotype variantsDilated cardiomyopathy 1CC
CM09773917840831778408317HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available