View genomic variant #0000005270

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.153640233_153640234del
Published as -
GERP -
Segregation -
DB-ID TAZ_000016 See all 2 reported entries
MSCV MSCV_0005270
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 0000005270 ./. - c.53_54del - p.(Leu19Glyfs*114) - - - r.(?) - -
DNASE1L1 00003221 NM_001009934.1 0000005270 ./. - c.-94_-93del - p.(=) - - - r.(=) - -
TAZ 00000323 NM_181311.2 0000005270 ./. - c.53_54del - p.(Leu19Glyfs*153) - - - r.(?) - -
TAZ 00000322 NM_181312.2 0000005270 ./. - c.53_54del - p.(Leu19Glyfs*114) - - - r.(?) - -
TAZ 00000324 NM_181313.2 0000005270 ./. - c.53_54del - p.(Leu19Glyfs*139) - - - r.(?) - -
TAZ 00000320 NR_024048.1 0000005270 ./. - n.357_358del - - - - - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
CD972175X153640234153640234HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available