View genomic variant #0000002194

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.21954091C>T
Published as -
GERP 4.880
Segregation -
DB-ID ABCC9_000001
MSCV MSCV_0002194
dbSNP ID rs121909304
Frequency -
Sources ; clinvar;
Reference 15034580
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     
ABCC9 00003246 NM_005691.2 0000002194 +/+ c.*4017G>A p.(=) - - - - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000008640;
Chromosome 12:21954091..21954091
ClinVar Allele ID 23201
Disease database name and identifier MedGen:C1837839, OMIM:608569
ClinVar preferred disease name Dilated cardiomyopathy 1O
HGVS variant names NC 000012.11:g.21954091C>T
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:601439.0002
Gene symbol:Gene id. ABCC9:10060
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121909304
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
rs121909304122195409121954091C/TOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1O
rs121909304122195409121954091C/TOMIM phenotype variantsDilated cardiomyopathy 1O