Genomic variant #0000002194

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.21954091C>T
Published as -
GERP 4.880
Segregation -
DB-ID ABCC9_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ABCC9 NM_005691.2 +/+ c.*4017G>A p.(=) - - - - r.(=) -


ClinVar @ MSeqDR

23201
MedGen:C1837839,OMIM:608569
Dilated cardiomyopathy 1O
HGVS variant names NC 000012.11:g.21954091C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:601439.0002
Gene symbol:Gene id. ABCC9:10060
SO:0001583|missense variant
1
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