View genomic variant #0000001836

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.78408441A>G
Published as -
GERP 5.840
Segregation -
DB-ID NEXN_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

0.0001
0.00010
15365
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
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
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:613121.0002,UniProtKB (protein):Q0ZGT2#VAR 063011
Gene symbol:Gene id. NEXN:91624
SO:0001583|missense variant
1
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