Transcript #00000603

Transcript name transcript variant II
Gene name CDKL5 (cyclin-dependent kinase-like 5)
Chromosome X
Transcript - NCBI ID NM_001037343.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001032420.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 5/22 c.119C>T p.(Ala40Val) possibly_damaging(0.798) missense_variant - deleterious(0)
+/+ - 6/22 c.215T>A p.(Ile72Asn) probably_damaging(0.934) missense_variant - deleterious(0)
+/+ - 6/22 c.215T>C p.(Ile72Thr) possibly_damaging(0.803) missense_variant - deleterious(0)
+/+ - 8/22 c.455G>T p.(Cys152Phe) probably_damaging(0.951) missense_variant - deleterious(0)
+/+ - 9/22 c.525A>T p.(Arg175Ser) possibly_damaging(0.849) missense_variant - deleterious(0)
+?/+? - 9/22 c.533G>A p.(Arg178Gln) possibly_damaging(0.857) missense_variant - deleterious(0)
+?/+? - 9/22 c.533G>C p.(Arg178Pro) probably_damaging(0.96) missense_variant - deleterious(0)
+/+ - 12/22 c.863C>T p.(Thr288Ile) benign(0.379) missense_variant - tolerated(0.17)
+/+ - 12/22 c.872G>A p.(Cys291Tyr) possibly_damaging(0.671) missense_variant - deleterious(0)
./. - - c.2215C>T p.(=) - - - -
+/+ - 19/22 c.2500C>T - - stop_gained - -
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