All transcript variants in gene PIGG

Information The variants shown are described using the NM_001127178.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

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     
./. - c.-421573_*2842479del - r.0? p.0? g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. _1_13_ c.0 - r.0 p.0 g.(pter_60226)_(2452836_2500000)del - chr4: 60,226–2,452,836del - PIGG_000006 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - De novo - - - 0 - Johan den Dunnen
?/. - c.228G>T VUS r.(?) p.(Leu76Phe) g.494258G>T - PIGG(NM_001127178.2):c.228G>T (p.L76F) - PIGG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.309_310del VUS r.(?) p.(His103Glnfs*5) g.494339_494340del - PIGG(NM_001127178.1):c.307_308del (p.(His103GlnfsTer5)) - PIGG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.852G>A likely benign r.(?) p.(=) g.502710G>A - PIGG(NM_001345986.1):c.585G>A (p.E195=) - PIGG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.928C>T - r.(?) p.(Gln310*) g.509788C>T - - - PIGG_000004 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
+/. 6 c.928C>T - r.(?) p.(Gln310*) g.509788C>T - - - PIGG_000004 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
?/. - c.974C>G VUS r.(?) p.(Pro325Arg) g.509834C>G - PIGG(NM_001127178.1):c.974C>G (p.(Pro325Arg)) - PIGG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1114+8A>G likely benign r.(=) p.(=) g.509982A>G - PIGG(NM_001345994.1):c.-99+8A>G - PIGG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1114+9A>G - r.(=) p.(=) g.509983A>G g.516194A>G - - PIGG_000031 27 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs150974506 Germline - 27/2768 individuals - 0 - Mohammed Faruq
-?/. - c.1254G>A likely benign r.(?) p.(=) g.514984G>A - PIGG(NM_001345994.1):c.180G>A (p.T60=) - PIGG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1451C>T likely benign r.(?) p.(Ser484Leu) g.515567C>T - PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu)) - PIGG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1515G>A pathogenic r.(?) p.(Trp505*) g.515631G>A - PIGG(NM_001127178.2):c.1515G>A (p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1515G>A likely pathogenic r.(?) p.(Trp505*) g.515631G>A - PIGG(NM_001127178.2):c.1515G>A (p.W505*) - PIGG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1640G>A - r.(?) p.(Trp547*) g.517273G>A - - - PIGG_000009 - PubMed: Zhao et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1640G>A - r.(?) p.(Trp547*) g.517273G>A - - - PIGG_000009 - PubMed: Zhao et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1671_1695delinsCCACGTCTTGAGCCT ACMG: 4 r.(?) p.(Thr558Hisfs*22) g.517304_517328delinsCCACGTCTTGAGCCT g.523515_523539delinsCCACGTCTTGAGCCT - - PIGG_000029 ACMG PVS1, PM2 - - - Germline ? - - 0 - Andreas Laner
-?/. - c.1773A>C likely benign r.(?) p.(Gln591His) g.517406A>C - PIGG(NM_001127178.2):c.1773A>C (p.Q591H) - PIGG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1829G>T likely benign r.(?) p.(Cys610Phe) g.517462G>T - PIGG(NM_001127178.1):c.1829G>T (p.(Cys610Phe)) - PIGG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1954T>C VUS r.(?) p.(Trp652Arg) g.517587T>C - - - PIGG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1996_2005del likely pathogenic r.(?) p.(Arg666Alafs*3) g.517622_517631del g.523840_523849del 1996_2005delCGGCTGCTGC - PIGG_000030 - - - - Unknown - - - 0 - IMGAG
+?/. - c.2005C>T - r.(?) p.(Arg669Cys) g.517638C>T - - - PIGG_000001 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
?/. - c.2215G>A VUS r.(?) p.(Gly739Arg) g.520973G>A - PIGG(NM_001127178.2):c.2215G>A (p.G739R) - PIGG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 10i c.2261+1G>C - r.spl p.? g.521020G>C - - - PIGG_000005 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
+/. 10i c.2261+1G>C - r.spl p.? g.521020G>C - - - PIGG_000005 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
+/. - c.2600_2601delTA - r.(?) p.(Leu867*) g.527635_527636delTA - c.2600_2601delTA p.(Leu867*) (hom) [NM_017733.3] - PIGG_000010 - - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.2624_2625del likely pathogenic r.(?) p.(Leu875*) g.527659_527660del - PIGG(NM_001127178.2):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.1):c.1526_1527delTA (p.L509*) - PIGG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.2624_2625del pathogenic r.(?) p.(Leu875*) g.527659_527660del - PIGG(NM_001127178.2):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.1):c.1526_1527delTA (p.L509*) - PIGG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2680G>A ACMG: 3 r.(?) p.(Gly894Arg) g.527715G>A g.533926G>A - - PIGG_000028 ACMG PM2, PP3 - - - Germline ? - - 0 - Andreas Laner
-?/. - c.2769C>T likely benign r.(?) p.(=) g.532975C>T - PIGG(NM_001127178.2):c.2769C>T (p.Y923=) - PIGG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2871C>A pathogenic r.(?) p.(Tyr957*) g.533077C>A - PIGG(NM_001127178.2):c.2871C>A (p.Y957*) - PIGG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2918C>T VUS r.(?) p.(Thr973Met) g.533124C>T - PIGG(NM_001127178.2):c.2918C>T (p.T973M) - PIGG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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