Genomic variant #0000005264

Chromosome X
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640093G>C
Published as -
GERP -
Segregation -
DB-ID TAZ_000203
dbSNP ID -
Frequency -
Sources ; BSF_TAZ;
Reference -
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)     

Location     

Exon     

Protein     

GVS function     

Position     

PolyPhen     

RNA change     

Splice distance     

SIFT     
TAZ NM_000116.3 ./. c.-88G>C - - p.(=) - - - r.(=) - -
DNASE1L1 NM_001009934.1 ./. c.-88+135C>G - - p.(=) - - - r.(=) - -
TAZ NM_181311.2 ./. c.-88G>C - - p.(=) - - - r.(=) - -
TAZ NM_181312.2 ./. c.-88G>C - - p.(=) - - - r.(=) - -
TAZ NM_181313.2 ./. c.-88G>C - - p.(=) - - - r.(=) - -
TAZ NR_024048.1 ./. n.217G>C - - - - - - - - -


ClinVar @ MSeqDR

0.00419
0.0045
352795
Human Phenotype Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED CT:65457005|Human Phenotype Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002|MedGen:C3668940,OMIM:302045
Endocardial fibroelastosis|Left ventricular noncompaction cardiomyopathy|3-Methylglutaconic aciduria type 2|Dilated cardiomyopathy 3B
HGVS variant names NC 000023.10:g.153640093G>C
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:256284
Gene symbol:Gene id. DNASE1L1:1774|TAZ:6901
SO:0001623|5 prime UTR variant
1
dbSNP ID 113130344
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