Unique variants in gene PIGV

Information The variants shown are described using the NM_017837.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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 - c.-113561_*66600dup - r.0? p.0? g.27001256_27190935dup - - - PIGV_000024 - - - - De novo - - - - - Philippe Campeau
./. 1 - c.-92062_*66261dup - - - g.27022755_27190596dup g.26696264_26864105dup - - ARID1A_000099 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.53G>A - r.(?) p.(Cys18Tyr) g.27117359G>A - - - PIGV_000022 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
?/. 1 - c.94A>G VUS r.(?) p.(Ile32Val) g.27120619A>G - PIGV(NM_001202554.1):c.94A>G (p.(Ile32Val)) - PIGV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.101C>T VUS r.(?) p.(Pro34Leu) g.27120626C>T - PIGV(NM_001202554.1):c.101C>T (p.P34L) - PIGV_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.115G>A VUS r.(?) p.(Glu39Lys) g.27120640G>A - PIGV(NM_001202554.1):c.115G>A (p.E39K) - PIGV_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.176T>G - r.(?) p.(Leu59Arg) g.27120701T>G - - - PIGV_000021 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
+?/+? 1 - c.265C>T - r.(?) p.(Pro89Ser) g.27120790C>T - - - PIGV_000025 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
-?/. 1 - c.428A>G likely benign r.(?) p.(His143Arg) g.27120953A>G - PIGV(NM_001202554.1):c.428A>G (p.H143R) - PIGV_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.439C>T pathogenic r.(?) p.(Gln147*) g.27120964C>T - PIGV(NM_001202554.1):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? 1 - c.452C>T - r.(?) p.(Ala151Val) g.27120977C>T - - - PIGV_000026 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+/. 2 - c.467G>A - r.(?) p.(Cys156Tyr) g.27120992G>A g.26794501G>A - - PIGV_000005 2 more items PubMed: Horn 2011, PubMed: Thompson 2012 - - Germline yes - - - - Philippe Campeau
?/., -?/. 2 - c.473G>A VUS, likely benign r.(?) p.(Ser158Asn) g.27120998G>A - PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., +?/. 5 - c.494C>A likely pathogenic, pathogenic r.(?) p.(Ala165Glu) g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland, 1 more item PubMed: Thompson 2012 - - Germline, CLASSIFICATION record yes - - - - Philippe Campeau, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.511G>A likely benign r.(?) p.(Ala171Thr) g.27121036G>A - PIGV(NM_001202554.1):c.511G>A (p.A171T) - PIGV_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.577G>A VUS r.(?) p.(Val193Ile) g.27121102G>A - PIGV(NM_001202554.1):c.577G>A (p.(Val193Ile)) - PIGV_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? 1 - c.614A>G - r.(?) p.(Asn205Ser) g.27121139A>G - - - PIGV_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/. 1 2 c.615C>G - r.(?) p.(Asn205Lys) g.27121140C>G - NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.626G>C likely benign r.(?) p.(Ser209Thr) g.27121151G>C - PIGV(NM_001202554.1):c.626G>C (p.(Ser209Thr)) - PIGV_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.766C>A - r.(?) p.(Gln256Lys) g.27121291C>A g.26794800C>A - - PIGV_000003 1 more item PubMed: Krawtiz 2010 - rs267606952 Germline yes - - - - Philippe Campeau
+?/. 1 2 c.854A>G - r.(?) p.(Tyr285Cys) g.27121379A>G - NM_001202554:c.854A>G - PIGV_000018 - PubMed: Xue et al. 2016 - - Germline - - - - - Philippe Campeau
?/. 1 - c.872A>G VUS r.(?) p.(Asn291Ser) g.27121397A>G - PIGV(NM_001202554.1):c.872A>G (p.(Asn291Ser)) - PIGV_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.905T>C - r.(?) p.(Leu302Pro) g.27121430T>C - - - PIGV_000020 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
+/+, +?/. 14 3 c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 Alters a conserved residue. It was not found in 4000 exomes., 2 more items PubMed: Krawtiz 2010, PubMed: Horn 2011, PubMed: Thompson 2012, PubMed: Reynolds et al. 2017, 1 more item - rs139073416 Germline yes, ? - - - - Philippe Campeau
+/+, +/. 2 - c.1022C>T - r.(?) p.(Ala341Val) g.27121547C>T g.26795056C>T - - PIGV_000004 2 more items PubMed: Krawtiz 2010, PubMed: Thompson 2012 - rs139073416 Germline yes - - - - Philippe Campeau
+/. 1 - c.1154A>C - r.(?) p.(His385Pro) g.27121679A>C g.26795188A>C - - PIGV_000002 1 more item PubMed: Krawtiz 2010 - rs267606951 Germline yes - - - - Philippe Campeau
?/. 1 - c.1189A>G VUS r.(?) p.(Met397Val) g.27121714A>G - PIGV(NM_001202554.1):c.1189A>G (p.(Met397Val)) - PIGV_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 4 c.1253C>A - r.(?) p.(Ala418Asp) g.27124106C>A - - - PIGV_000019 - PubMed: Reynolds et al. 2017 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.1277C>T likely benign r.(?) p.(Pro426Leu) g.27124130C>T - PIGV(NM_001202554.1):c.1277C>T (p.(Pro426Leu)) - PIGV_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., -?/. 2 - c.1369C>T - r.(?) p.(Leu457Phe) g.27124222C>T g.26797731C>T - - PIGV_000007 2 more items PubMed: Thompson 2012, PubMed: Howard 2014 - - Germline yes, no - - - - Philippe Campeau
+?/. 1 - c.1405C>T - r.(?) p.(Arg469*) g.27124258C>T - - - PIGV_000023 - PubMed: Horn et al. 2014 - - Germline - - - - - Philippe Campeau
?/. 1 - c.1430C>T VUS r.(?) p.(Thr477Ile) g.27124283C>T - PIGV(NM_001202554.1):c.1430C>T (p.(Thr477Ile)) - PIGV_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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