Genomic variant #0000002195

Chromosome 12
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) 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
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ABCC9 NM_005691.2 -?/-? c.2523C>T p.(=) synonymous_variant - 21/38 - r.(=) -


ClinVar @ MSeqDR

0.0051
0.00356
0.0016
44293
EFO:EFO 0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1O|not specified|Cardiovascular phenotype
HGVS variant names NC 000012.11:g.22005422G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. ABCC9:10060
SO:0001819|synonymous variant
1
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