All transcript variants in gene PIGG

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

27 entries on 1 page. Showing entries 1 - 27.
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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.26C>T likely benign r.(?) p.(Ala9Val) g.493150C>T - PIGG(NM_001127178.1):c.26C>T (p.(Ala9Val)) - PIGG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.158C>A likely benign r.(?) p.(Ala53Asp) g.494188C>A - PIGG(NM_001127178.1):c.158C>A (p.(Ala53Asp)) - PIGG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - 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
?/. - c.309_310del VUS r.(?) p.(His103Glnfs*5) g.494339_494340del - PIGG - PIGG_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - 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
+/. 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
-?/. - c.1451C>T likely benign r.(?) p.(Ser484Leu) g.515567C>T - PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu), p.(Ser476Leu)) - PIGG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - 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
+?/. - 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.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
-?/. - c.1829G>T likely benign r.(?) p.(Cys610Phe) g.517462G>T - PIGG(NM_001127178.1):c.1829G>T (p.(Cys610Phe), p.(Cys602Phe)) - PIGG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1954T>C VUS r.(?) p.(Trp652Arg) g.517587T>C - PIGG(NM_017733,NM_001127178,NR_110293,NM_001289051,NM_001289052):c.1954T>C (p.(Trp652Arg)) - PIGG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.2005C>T - r.(?) p.(Arg669Cys) g.517638C>T - - - PIGG_000001 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - - Germline - - - 0 - Jamie Zeegers
-?/. - c.2191G>A likely benign r.(?) p.(Val731Ile) g.520949G>A - PIGG(NM_001127178.1):c.2191G>A (p.(Val731Ile), p.(Val723Ile)) - PIGG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - 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
+/. 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_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_001345994.1):c.1526_1527delTA (p.L509*) - PIGG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - 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
?/. - 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
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