Genomic variant #0000005272

Chromosome X
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640262_153640264del
Published as -
GERP -
Segregation -
DB-ID TAZ_000018 See all 2 reported entries
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.82_84del - - p.(Val28del) - - - r.(?) - -
DNASE1L1 NM_001009934.1 ./. c.-124_-122del - - p.(=) - - - r.(=) - -
TAZ NM_181311.2 ./. c.82_84del - - p.(Val28del) - - - r.(?) - -
TAZ NM_181312.2 ./. c.82_84del - - p.(Val28del) - - - r.(?) - -
TAZ NM_181313.2 ./. c.82_84del - - p.(Val28del) - - - r.(?) - -
TAZ NR_024048.1 ./. n.386_388del - - - - - - - - -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None