Unique variants in gene PGAP1

Information The variants shown are described using the NM_024989.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 2 c.274_276del - r.(?) p.(Pro92del) g.197784746_197784748del g.196920022_196920024del - - PGAP1_000001 variant heterozygous in sister PubMed: Bosch 2015, Journal: Bosch 2015, dear8LOV - - Germline - - - - - Danielle Bosch
?/. 1 - c.331A>G VUS r.(?) p.(Lys111Glu) g.197781288T>C - PGAP1(NM_024989.3):c.331A>G (p.(Lys111Glu)) - chr2_012465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 - c.334_335insA - r.(?) p.(Ala112Aspfs*5) g.197781284_197781285insT - - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - - - Philippe Campeau
+/. 1 - c.427C>T pathogenic r.(?) p.(Gln143*) g.197781192G>A - PGAP1(NM_024989.3):c.427C>T (p.(Gln143*)) - chr2_012464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 - c.589_591delCTT - r.(?) p.(Leu197del) g.197777664_197777666delAAG g.196912940_196912942delAAG - - PGAP1_000005 1 more item PubMed: Murakami et al. 2014 - rs587777378 Germline yes - - - - Philippe Campeau
-?/. 1 - c.906T>C likely benign r.(?) p.(=) g.197761876A>G - PGAP1(NM_001321099.1):c.384T>C (p.L128=) - chr2_012463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 7 c.914C>T likely benign r.(?) p.(Ala305Val) g.197761868G>A, g.197761868C>T g.196897144G>A PGAP1(NM_024989.3):c.914C>T (p.A305V) - PGAP1_000002 VKGL data sharing initiative Nederland PubMed: Bosch 2015, Journal: Bosch 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Danielle Bosch
+/. 1 7 c.921_925del - r.(?) p.(Lys308Asnfs*25) g.197761857_197761861del g.196897133_196897137del - - PGAP1_000003 variant not present in sister PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - - - Danielle Bosch
?/. 1 - c.1089+1G>A VUS r.(?) p.() g.197757069C>T - - - PGAP1_000016 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1089+5delG VUS r.(?) p.() g.197757065del - - - PGAP1_000015 - - - - Unknown - - - - - IMGAG
+?/. 2 - c.1090-2A>G - r.spl? p.? g.197755637T>C - - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - - - Philippe Campeau
+?/. 2 - c.1173G>C - r.(=) p.(=) g.197755552C>G - - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - - - Philippe Campeau
+/. 1 - c.1271A>G pathogenic r.(?) p.(Lys424Arg) g.197750149T>C - PGAP1(NM_024989.3):c.1271A>G (p.Lys424Arg / r.(spl?)) - PGAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1396C>T - r.(?) p.(Gln466*) g.197740500G>A - - - PGAP1_000014 - PubMed: Williams et al. 2015 - - Germline - - - - - Philippe Campeau
+?/. 1 - c.1572T>A - r.(?) p.(Tyr524*) g.197737731A>T - - - PGAP1_000013 - PubMed: Williams et al. 2015 - - Germline - - - - - Philippe Campeau
?/. 1 - c.1729-4C>T VUS r.spl? p.? g.197735707G>A - PGAP1(NM_024989,3):c.1729-4C>T (r.spl.?) - chr2_012462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1753C>G likely benign r.(?) p.(Gln585Glu) g.197735679G>C - PGAP1(NM_024989.3):c.1753C>G (p.(Gln585Glu)) - chr2_012461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1787G>T likely benign r.(?) p.(Gly596Val) g.197729785C>A - PGAP1(NM_024989.3):c.1787G>T (p.(Gly596Val)) - chr2_012460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1952+1G>T - r.spl? p.? g.197712670C>A g.196847946C>A - - PGAP1_000004 1 more item PubMed: Novarino et al. - rs587777202 Germline yes - - - - Philippe Campeau
?/. 1 - c.2189C>T VUS r.(?) p.(Pro730Leu) g.197710703G>A - PGAP1(NM_024989.3):c.2189C>T (p.(Pro730Leu)) - PGAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2306G>A likely benign r.(?) p.(Ser769Asn) g.197709279C>T - PGAP1(NM_001321099.1):c.1784G>A (p.S595N) - chr2_012459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2335G>A VUS r.(?) p.(Val779Met) g.197709250C>T - PGAP1(NM_024989.3):c.2335G>A (p.(Val779Met)) - PGAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2349delinsATAATCCCAAACAA ACMG: 4 r.(?) p.(His783Glnfs*2) g.197708788delinsTTGTTTGGGATTAT g.196844064delinsTTGTTTGGGATTAT - - PGAP1_000006 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-?/. 1 - c.2408G>A likely benign r.(?) p.(Arg803His) g.197708729C>T - PGAP1(NM_024989.3):c.2408G>A (p.(Arg803His)) - chr2_012458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2674G>A likely benign r.(?) p.(Val892Ile) g.197706053C>T - PGAP1(NM_024989.3):c.2674G>A (p.(Val892Ile)) - chr2_012457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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