Transcript #00016026

Transcript name post-GPI attachment to proteins 1
Gene name PGAP1 (post-GPI attachment to proteins 1)
Chromosome 2
Transcript - NCBI ID NM_024989.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079265.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 2 c.274_276del - r.(?) p.(Pro92del)
?/. - c.331A>G VUS r.(?) p.(Lys111Glu)
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5)
+?/. - c.334_335insA - r.(?) p.(Ala112Aspfs*5)
+/. - c.427C>T pathogenic r.(?) p.(Gln143*)
+/+ - c.589_591delCTT - r.(?) p.(Leu197del)
-?/. - c.906T>C likely benign r.(?) p.(=)
-?/. - c.914C>T likely benign r.(?) p.(Ala305Val)
-?/. 7 c.914C>T - r.(?) p.(Ala305Val)
+/. 7 c.921_925del - r.(?) p.(Lys308Asnfs*25)
?/. - c.1089+1G>A VUS r.(?) p.()
?/. - c.1089+5delG VUS r.(?) p.()
+?/. - c.1090-2A>G - r.spl? p.?
+?/. - c.1090-2A>G - r.spl? p.?
+?/. - c.1173G>C - r.(=) p.(=)
+?/. - c.1173G>C - r.(=) p.(=)
+/. - c.1271A>G pathogenic r.(?) p.(Lys424Arg)
+?/. - c.1396C>T - r.(?) p.(Gln466*)
+?/. - c.1572T>A - r.(?) p.(Tyr524*)
?/. - c.1729-4C>T VUS r.spl? p.?
-?/. - c.1753C>G likely benign r.(?) p.(Gln585Glu)
-?/. - c.1787G>T likely benign r.(?) p.(Gly596Val)
+/. - c.1952+1G>T - r.spl? p.?
?/. - c.2189C>T VUS r.(?) p.(Pro730Leu)
-?/. - c.2306G>A likely benign r.(?) p.(Ser769Asn)
?/. - c.2335G>A VUS r.(?) p.(Val779Met)
+?/. - c.2349delinsATAATCCCAAACAA ACMG: 4 r.(?) p.(His783Glnfs*2)
-?/. - c.2408G>A likely benign r.(?) p.(Arg803His)
-?/. - c.2674G>A likely benign r.(?) p.(Val892Ile)
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