View genomic variant #0000005282

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640406C>T
Published as -
GERP -
Segregation -
DB-ID TAZ_000010 See all 3 reported entries
MSCV MSCV_0005282
dbSNP ID -
Frequency -
Sources ; BSF_TAZ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.17107 View details
Owner LOVD




Variant on transcripts

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Position     

PolyPhen     

RNA change     

Splice distance     

SIFT     
TAZ 00000321 NM_000116.3 0000005282 ./. - c.110-17C>T - p.(=) - - - r.(=) - -
DNASE1L1 00003221 NM_001009934.1 0000005282 ./. - c.-266G>A - - - - - - - -
TAZ 00000323 NM_181311.2 0000005282 ./. - c.110-17C>T - p.(=) - - - r.(=) - -
TAZ 00000322 NM_181312.2 0000005282 ./. - c.110-17C>T - p.(=) - - - r.(=) - -
TAZ 00000324 NM_181313.2 0000005282 ./. - c.110-17C>T - p.(=) - - - r.(=) - -
TAZ 00000320 NR_024048.1 0000005282 ./. - n.414-17C>T - - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000030474; RCV000245792;
Chromosome X:153640406..153640406
Allele frequencies from ESP 0.1711
Allele frequencies from ExAC 0.20060
Allele frequencies from TGP 0.0649
ClinVar Allele ID 45455
Disease database name and identifier MedGen:C0574083, OMIM:302060, Orphanet:ORPHA111, SNOMED CT:297231002|MedGen:CN169374
ClinVar preferred disease name 3-Methylglutaconic aciduria type 2|not specified
HGVS variant names NC 000023.10:g.153640406C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. DNASE1L1:1774|TAZ:6901
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 62617809
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