View genomic variant #0000005267

Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640193G>T
Published as -
GERP -
Segregation -
DB-ID TAZ_000183
MSCV MSCV_0005267
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

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 0000005267 ./. - c.13G>T - p.(Val5Leu) - - - r.(?) - -
DNASE1L1 00003221 NM_001009934.1 0000005267 ./. - c.-88+35C>A - p.(=) - - - r.(=) - -
TAZ 00000323 NM_181311.2 0000005267 ./. - c.13G>T - p.(Val5Leu) - - - r.(?) - -
TAZ 00000322 NM_181312.2 0000005267 ./. - c.13G>T - p.(Val5Leu) - - - r.(?) - -
TAZ 00000324 NM_181313.2 0000005267 ./. - c.13G>T - p.(Val5Leu) - - - r.(?) - -
TAZ 00000320 NR_024048.1 0000005267 ./. - n.317G>T - - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000035086;
Chromosome X:153640193..153640193
Allele frequencies from ExAC 0.00007
ClinVar Allele ID 51423
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000023.10:g.153640193G>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. DNASE1L1:1774|TAZ:6901
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 397515737
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