View genomic variant #0000003468

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.153640263T>A
Published as -
GERP 4.140
Segregation -
DB-ID TAZ_000019 See all 2 reported entries
MSCV MSCV_0003468
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 0000003468 +?/+? - c.83T>A 1/10 p.(Val28Glu) missense_variant - probably_damaging(0.997) r.(?) - deleterious(0)
DNASE1L1 00003221 NM_001009934.1 0000003468 +?/+? - c.-123A>T - p.(=) - - - r.(=) - -
TAZ 00000323 NM_181311.2 0000003468 +?/+? - c.83T>A 1/10 p.(Val28Glu) missense_variant - probably_damaging(0.997) r.(?) - deleterious(0)
TAZ 00000322 NM_181312.2 0000003468 +?/+? - c.83T>A 1/10 p.(Val28Glu) missense_variant - probably_damaging(0.997) r.(?) - deleterious(0)
TAZ 00000324 NM_181313.2 0000003468 +?/+? - c.83T>A 1/10 p.(Val28Glu) missense_variant - probably_damaging(0.997) r.(?) - deleterious(0)
TAZ 00000320 NR_024048.1 0000003468 +?/+? - n.387T>A 1/10 - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None