View genomic variant #0000002195

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.22005422G>A
Published as -
GERP 1.470
Segregation -
DB-ID ABCC9_000002
MSCV MSCV_0002195
dbSNP ID rs144537241
Frequency -
Sources ; clinvar;
Reference 20474083
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00507 View details
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 0000002195 -?/-? c.2523C>T p.(=) synonymous_variant - 21/38 - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000243743; RCV000465190; RCV000029275; RCV000038605;
Chromosome 12:22005422..22005422
Allele frequencies from ESP 0.0051
Allele frequencies from ExAC 0.00356
Allele frequencies from TGP 0.0016
ClinVar Allele ID 44293
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004|MedGen:C1837839, OMIM:608569|MedGen:CN169374|MedGen:CN230736
ClinVar preferred disease name Primary dilated cardiomyopathy|Dilated cardiomyopathy 1O|not specified|Cardiovascular phenotype
HGVS variant names NC 000012.11:g.22005422G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ABCC9:10060
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 144537241
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None