View genomic variant #0000003472

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.153640294G>C
Published as -
GERP 3.880
Segregation -
DB-ID TAZ_000023 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     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Position     

PolyPhen     

RNA change     

Splice distance     

SIFT     
TAZ NM_000116.3 +?/+? - c.109+5G>C - p.? - - - r.spl? - -
DNASE1L1 NM_001009934.1 +?/+? - c.-154C>G - p.(=) - - - r.(=) - -
TAZ NM_181311.2 +?/+? - c.109+5G>C - p.? - - - r.spl? - -
TAZ NM_181312.2 +?/+? - c.109+5G>C - p.? - - - r.spl? - -
TAZ NM_181313.2 +?/+? - c.109+5G>C - p.? - - - r.spl? - -
TAZ NR_024048.1 +?/+? - n.413+5G>C - p.? - - - r.spl? - -


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
CS971712X153640294153640294HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CS971713X153640294153640294HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available