Transcript #00000321

Transcript name transcript variant 1
Gene name TAZ (tafazzin)
Chromosome X
Transcript - NCBI ID NM_000116.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000107.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

397 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-120del p.(=) - - - -
./. - - c.-119del p.(=) - - - -
./. - - c.-88G>C p.(=) - - - -
./. - - c.-88G>C p.(=) - - - -
./. - - c.-17C>T p.(=) - - - -
./. - - c.1del p.? - - - -
./. - - c.1del p.? - - - -
+?/+? - 1/10 c.10_11insG p.(His4Argfs*130) - frameshift_variant - -
./. - - c.10_11insG p.(His4Argfs*130) - - - -
./. - - c.13G>T p.(Val5Leu) - - - -
./. - - c.48C>G p.(=) - - - -
?/? - 1/10 c.51G>A p.(Trp17*) - stop_gained - -
./. - - c.51G>A p.(Trp17*) - - - -
+?/+? - - c.53_54del p.(Leu19Glyfs*114) - - - -
./. - - c.53_54del p.(Leu19Glyfs*114) - - - -
./. - - c.62G>T p.(Ser21Ile) - - - -
?/? - 1/10 c.62G>T p.(Ser21Ile) probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.69C>T p.(=) - - - -
+?/+? - - c.82_84del p.(Val28del) - - - -
./. - - c.82_84del p.(Val28del) - - - -
+?/+? - 1/10 c.83T>A p.(Val28Glu) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.83T>A p.(Val28Glu) - - - -
?/? - 1/10 c.86G>A p.(Gly29Asp) probably_damaging(0.96) missense_variant - deleterious(0)
./. - - c.86G>A p.(Gly29Asp) - - - -
+?/+? - - c.109+1G>C p.? - splice_donor_variant - -
./. - - c.109+1G>C p.? - - - -
+?/+? - - c.109+5G>A p.? - - - -
./. - - c.109+5G>A p.? - - - -
+?/+? - - c.109+5G>C p.? - - - -
./. - - c.109+5G>C p.? - - - -
+?/+? - - c.109+6T>C p.(=) - - - -
./. - - c.109+6T>C p.(=) - - - -
./. - - c.109+28C>T p.(=) - - - -
+?/+? - - c.110-17C>G - - - - -
./. - - c.110-17C>T p.(=) - - - -
+?/+? - - c.110-17C>T - - - - -
./. - - c.110-17C>T p.(=) - - - -
./. - - c.110-2A>G p.? - - - -
+?/+? - - c.110-2A>G p.? - splice_acceptor_variant - -
+?/+? - - c.110-1G>C p.? - splice_acceptor_variant - -
./. - - c.110-1G>C p.? - - - -
./. - - c.118A>G p.(Asn40Asp) - - - -
?/? - 2/10 c.118A>G p.(Asn40Asp) probably_damaging(0.913) missense_variant - deleterious(0.01)
./. - - c.123C>T p.(=) - - - -
./. - - c.123C>T p.(=) - - - -
./. - - c.124del p.(Leu42*) - - - -
+?/+? - - c.124del p.(Leu42*) - - - -
?/? - 2/10 c.127A>C p.(Thr43Pro) benign(0.419) missense_variant - tolerated(0.17)
./. - - c.127A>C p.(Thr43Pro) - - - -
./. - - c.140_152del p.(Arg47Thrfs*32) - - - -
+?/+? - - c.140_152del p.(Arg47Thrfs*32) - - - -
+?/+? - - c.143_144del p.(Glu48Glyfs*85) - - - -
./. - - c.149T>C p.(Leu50Pro) - - - -
?/? - 2/10 c.149T>C p.(Leu50Pro) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.153C>G p.(Tyr51*) - - - -
+/+ - 2/10 c.153C>G p.(Tyr51*) - stop_gained - -
./. - - c.153C>G p.(Tyr51*) - - - -
./. - - c.157dup p.(Leu53Profs*81) - - - -
./. - 2/10 c.157_158insCT p.(Leu53Profs*31) - frameshift_variant - -
./. - - c.158_162del p.(Leu53Argfs*79) - - - -
./. - - c.161T>A p.(Ile54Asn) - - - -
?/? - 2/10 c.161T>A p.(Ile54Asn) probably_damaging(0.944) missense_variant - deleterious(0)
./. - - c.163G>T p.(Glu55*) - - - -
?/? - 2/10 c.163G>T p.(Glu55*) - stop_gained - -
./. - - c.170G>T p.(Arg57Leu) - - - -
?/? - 2/10 c.170G>T p.(Arg57Leu) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.171del p.(Gly58Alafs*25) - - - -
+?/+? - - c.171del p.(Gly58Alafs*25) - - - -
?/? - 2/10 c.185C>T p.(Pro62Leu) probably_damaging(0.929) missense_variant - deleterious(0)
./. - - c.185C>T p.(Pro62Leu) - - - -
./. - - c.207C>G p.(His69Gln) - - - -
?/? - 2/10 c.207C>G p.(His69Gln) probably_damaging(0.997) missense_variant - deleterious(0)
+?/+? - 2/10 c.208C>T p.(Gln70*) - stop_gained - -
./. - - c.208C>T p.(Gln70*) - - - -
./. - - c.208C>T p.(Gln70*) - - - -
./. - - c.211T>C p.(Ser71Pro) - - - -
?/? - 2/10 c.211T>C p.(Ser71Pro) probably_damaging(0.99) missense_variant - deleterious(0)
./. - - c.216C>A p.(Cys72*) - - - -
?/? - 2/10 c.216C>A p.(Cys72*) - stop_gained - -
./. - - c.222C>G p.(Asp74Glu) - - - -
?/? - 2/10 c.222C>G p.(Asp74Glu) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.223G>C p.(Asp75His) - - - -
?/? - 2/10 c.223G>C p.(Asp75His) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.227C>G p.(Pro76Arg) - - - -
./. - - c.227del p.(Pro76Leufs*7) - - - -
+?/+? - - c.227del p.(Pro76Leufs*7) - - - -
./. - - c.236G>A p.(Trp79*) - - - -
?/? - 2/10 c.236G>A p.(Trp79*) - stop_gained,splice_region_variant - -
+?/+? - 2/10 c.237G>A p.(Trp79*) - stop_gained,splice_region_variant - -
./. - - c.237G>A p.(Trp79*) - - - -
./. - - c.238G>A p.(Gly80Arg) - - - -
?/? - 2/10 c.238G>A p.(Gly80Arg) probably_damaging(0.995) missense_variant,splice_region_variant - deleterious(0)
./. - - c.238G>A p.(Gly80Arg) - - - -
./. - - c.238+2T>G p.? - - - -
?/? - - c.238+2T>G p.? - splice_donor_variant - -
?/? - - c.239-1G>A p.? - splice_acceptor_variant - -
./. - - c.239-1G>C p.? - - - -
?/? - - c.239-1G>C p.? - splice_acceptor_variant - -
./. - - c.239del p.(Ile81Serfs*2) - - - -
?/? - 3/10 c.239G>A p.(Gly80Glu) probably_damaging(0.993) missense_variant,splice_region_variant - deleterious(0)
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