Genomic variant #0000001835

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.78408317C>A
Published as -
GERP 5.840
Segregation -
DB-ID NEXN_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NEXN NM_144573.3 +/+ c.1831C>A p.(Pro611Thr) missense_variant - 13/13 probably_damaging(0.994) r.(?) deleterious(0)


ClinVar @ MSeqDR

15366
MedGen:C2751084,OMIM:613122
Dilated cardiomyopathy 1CC
HGVS variant names NC 000001.10:g.78408317C>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:613121.0003|UniProtKB (protein):Q0ZGT2#VAR 063009
Gene symbol:Gene id. NEXN:91624
SO:0001583|missense variant
1
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