Transcript #00000600

Transcript name transcript variant 1
Gene name PIGA (phosphatidylinositol glycan anchor biosynthesis, class A)
Chromosome X
Transcript - NCBI ID NM_002641.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002632.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-75A>G r.(?) p.(=)
?/. - c.-63+140C>G - p.(=)
?/. - c.-63+140C>G - p.(=)
./. 2 c.16G>T r.(?) p.(Gly6*)
-/. - c.55C>T r.(?) p.(Arg19Trp)
-/. - c.55C>T r.(?) p.(Arg19Trp)
-/. - c.55C>T r.(?) p.(Arg19Trp)
?/. - c.56G>A r.(?) p.(Arg19Gln)
?/. - c.61A>G r.(?) p.(Ser21Gly)
?/. - c.61A>G r.(?) p.(Ser21Gly)
-?/. - c.64C>T r.(?) p.(Pro22Ser)
+/. - c.76dup r.(?) p.(Tyr26Leufs*4)
./. - c.76dup r.(?) p.(Tyr26Leufs*4)
+?/. 2 c.98A>G r.(?) p.(His33Arg)
?/. - c.98A>G r.(?) p.(His33Arg)
+/. - c.110T>C r.(?) p.(Met37Thr)
+/. 2 c.110T>C r.(?) p.(Met37Thr)
?/. - c.145G>A r.(?) p.(Val49Met)
+?/+? - c.145G>A r.(?) p.(Val49Met)
+?/. - c.182T>C r.(?) p.(Ile61Thr)
./. 2 c.211A>G r.(?) p.(Thr71Ala)
+?/+? - c.229C>G r.(?) p.(Arg77Gly)
?/. - c.230G>A r.(?) p.(Arg77Gln)
./. 2 c.230G>T r.(?) p.(Arg77Leu)
+?/+? - c.236G>T r.(?) p.(Gly79Val)
+?/+? - c.242G>A r.(?) p.(Arg81His)
?/. - c.248T>C r.(?) p.(Leu83Pro)
./. 2 c.251C>T r.(?) p.(Thr84Ile)
+/. - c.278C>T r.(?) p.(Pro93Leu)
+/. - c.278C>T r.(?) p.(Pro93Leu)
+/. - c.290T>A r.(?) p.(Met97Lys)
+/. - c.293A>C r.(?) p.(Tyr98Ser)
?/. - c.313A>C r.(?) p.(Thr105Pro)
+/. 2 c.355C>T r.(?) p.(Arg119Trp)
+/. - c.356G>A r.(?) p.(Arg119Gln)
+?/+? - c.404C>T r.(?) p.(Ala135Val)
+?/. - c.424G>A r.(?) p.(Ala142Thr)
+?/. - c.427A>G r.(?) p.(Lys143Glu)
+?/+? - c.481G>A r.(?) p.(Asp161Asn)
-?/. - c.492G>A r.(?) p.(=)
+?/. - c.535A>T r.(?) p.(Asn179Tyr)
+?/. - c.535A>T r.(?) p.(Asn179Tyr)
+?/+? - c.565A>G r.(?) p.(Lys189Glu)
?/. - c.613G>A r.(?) p.(Val205Ile)
+/. 2 c.616A>T r.(?) p.(Ile206Phe)
?/. - c.665G>A r.(?) p.(Arg222Lys)
?/. - c.665G>A r.(?) p.(Arg222Lys)
?/. - c.715+168C>A - p.(=)
-?/. - c.716-10A>G r.(=) p.(=)
?/. - c.849-130_849-129insTT - p.(=)
?/. - c.849-130_849-129insTT - p.(=)
-?/. - c.849-129_849-128dup r.(=) p.(=)
?/. - c.849-128_849-127insTT - p.(=)
?/. - c.849-128_849-127insTT - p.(=)
-?/. - c.849-71G>A r.(=) p.(=)
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15)
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15)
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15)
-?/. - c.933T>C r.(?) p.(=)
-?/. - c.954C>T r.(?) p.(=)
+/. - c.971G>T r.(?) p.(Cys324Phe)
+?/+? - c.971G>T r.(?) p.(Cys324Phe)
-?/. - c.981+8G>A r.(=) p.(=)
+?/. - c.989G>A r.(?) p.(Ser330Asn)
+/. 4 c.1030_1032delCTT r.(?) p.(Leu344del)
+/. - c.1064T>C r.(?) p.(Leu355Ser)
?/. - c.1202T>G r.(?) p.(Val401Gly)
+/. 6 c.1234C>T r.(?) p.(Arg412*)
+/. 6 c.1234C>T r.(?) p.(Arg412*)
+/. - c.1234C>T r.(?) p.(Arg412*)
+/. - c.1234C>T r.(?) p.(Arg412*)
+/. 6 c.1234C>T r.(?) p.(Arg412*)
-?/. - c.1261G>A r.(?) p.(Gly421Ser)
./. 6 c.1324_1355dup r.(?) p.(Val453*)
?/. - c.1330T>G r.(?) p.(Trp444Gly)
+?/+? - c.1352T>C r.(?) p.(Ile451Thr)
+?/+? - c.1354G>T r.(?) p.(Asp452Tyr)
./. 6 c.1355_1356insAA r.(?) p.(Asp452Glufs*5)
-?/. - c.1420G>A r.(?) p.(Gly474Arg)
-?/. - c.1421G>T r.(?) p.(Gly474Val)
-?/. - c.1421G>T r.(?) p.(Gly474Val)
?/. - c.*1626T>C - p.(=)
?/. - c.*1626T>C - p.(=)
?/. - c.*1746T>A - p.(=)
?/. - c.*1746T>A - p.(=)
?/. - c.*1771dup - p.(=)
?/. - c.*1771dup - p.(=)
?/. - c.*1778_*1779insT - p.(=)
?/. - c.*1778_*1779insT - p.(=)
?/. - c.*2014A>G - p.(=)
?/. - c.*2014A>G - p.(=)
?/. - c.*5985A>G r.(=) p.(=)
-?/. - c.*6082G>A r.(=) p.(=)
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