View genomic variant #0000001560

Chromosome X
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640406C>G
Published as -
GERP -0.452
Segregation -
DB-ID TAZ_000009
dbSNP ID rs62617809
Frequency -
Sources ; clinvar;
Reference 15793838
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     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Position     

PolyPhen     

RNA change     

Splice distance     

SIFT     
TAZ NM_000116.3 +?/+? - c.110-17C>G - - - - - - - -
DNASE1L1 NM_001009934.1 +?/+? - c.-266G>C - - - - - - - -
TAZ NM_181311.2 +?/+? - c.110-17C>G - p.(=) - - - r.(=) - -
TAZ NM_181312.2 +?/+? - c.110-17C>G - p.(=) - - - r.(=) - -
TAZ NM_181313.2 +?/+? - c.110-17C>G - p.(=) - - - r.(=) - -
TAZ NR_024048.1 +?/+? - n.414-17C>G - - - - - - - -


ClinVar @ MSeqDR

0.1711
0.20060
0.0649
45455
MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002|MedGen:CN169374
3-Methylglutaconic aciduria type 2|not specified
HGVS variant names NC 000023.10:g.153640406C>T
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. DNASE1L1:1774|TAZ:6901
SO:0001627|intron variant
1
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