All transcript variants in gene PIGT

Information The variants shown are described using the NM_015937.5 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. _1_11_ c.0 pathogenic r.0 p.0 g.(36500000_36600000)_(44600000_44700000)del - - - PIGT_000003 8 Mb deletion (FISH 92% granulocyte interphase nuclei) PubMed: Krawitz 2013, Journal: Krawitz 2013 - - Somatic - - - 0 - Johan den Dunnen
-?/. - c.14T>C likely benign r.(?) p.(Met5Thr) g.44044810T>C - PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)) - PIGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.14T>C likely benign r.(?) p.(Met5Thr) g.44044810T>C - PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)) - PIGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.92G>C likely benign r.(?) p.(Arg31Pro) g.44044888G>C - PIGT(NM_001184728.2):c.92G>C (p.(Arg31Pro)) - PIGT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.250G>T - r.(?) p.(Glu84*) g.44045219G>T - - - PIGT_000018 - PubMed: Nakashima et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.250G>T - r.(?) p.(Glu84*) g.44045219G>T - - - PIGT_000018 - PubMed: Kohashi et al. 2018 - - Germline - - - 0 - Philippe Campeau
-?/. - c.367G>T likely benign r.(?) p.(Val123Leu) g.44047493G>T - PIGT(NM_015937.5):c.367G>T (p.V123L) - PIGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.367G>T likely benign r.(?) p.(Val123Leu) g.44047493G>T - PIGT(NM_015937.5):c.367G>T (p.V123L) - PIGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? - c.494-2A>G - r.spl? p.? g.44047933A>G - - - PIGT_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-/. - c.533G>A benign r.(?) p.(Arg178Gln) g.44047974G>A - PIGT(NM_015937.5):c.533G>A (p.R178Q) - PIGT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.547A>C - r.(?) p.(Thr183Pro) g.45419348A>C - - - PIGT_000001 causality supported by functional experiments with morpholino/zebra fish KO and co-injection rescue of wt/variant mRNA PubMed: Kvarnung 2013 - rs587777027 Germline yes - - 0 - Philippe Campeau
+/. - c.547A>C - r.(?) p.(Thr183Pro) g.44047988A>C - NM_015937.5:c.547A>C, p.Thr183Pro - PIGT_000001 CADD score: 26.4 - - - Germline - - - 0 - Philippe Campeau
+/. 4 c.550G>A - r.(?) p.(Glu184Lys) g.44047991G>A - - - PIGT_000026 This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL). - - rs774753616 Germline - MAF: 0.00001626 - 0 - Philippe Campeau
+/. 4 c.550G>A - r.(?) p.(Glu184Lys) g.44047991G>A - - - PIGT_000026 This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL). - - rs774753616 Germline - - - 0 - Philippe Campeau
-?/. - c.581C>T likely benign r.(?) p.(Pro194Leu) g.44048022C>T - PIGT(NM_001184728.2):c.413C>T (p.(Pro138Leu), p.(Pro194Leu), p.(Pro92Leu)) - PIGT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.659T>C likely pathogenic r.(?) p.(Val220Ala) g.44048208T>C - PIGT(NM_015937.5):c.659T>C (p.(Val220Ala)) - PIGT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.667C>T likely benign r.(?) p.(Arg223Cys) g.44048216C>T - PIGT(NM_001184728.2):c.499C>T (p.(Arg167Cys), p.(Arg223Cys), p.(Arg121Cys)) - PIGT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.675T>C likely benign r.(?) p.(=) g.44048224T>C - PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.675T>C likely benign r.(?) p.(=) g.44048224T>C - PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.689G>A likely benign r.(?) p.(Arg230His) g.44048783G>A - PIGT(NM_015937.5):c.689G>A (p.R230H) - PIGT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.709G>C - r.(?) p.(Glu237Gln) g.44048803G>C - - - PIGT_000025 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.709G>C - r.(?) p.(Glu237Gln) g.44048803G>C - - - PIGT_000025 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
-?/. - c.770-14G>A likely benign r.(=) p.(=) g.44048958G>A - PIGT(NM_015937.5):c.770-14G>A - PIGT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.770A>C benign r.(?) p.(Asp257Ala) g.44048972A>C - PIGT(NM_015937.5):c.770A>C (p.D257A) - PIGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.770A>C likely benign r.(?) p.(Asp257Ala) g.44048972A>C - PIGT(NM_015937.5):c.770A>C (p.D257A) - PIGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.806C>T VUS r.(?) p.(Thr269Met) g.44049008C>T - PIGT(NM_015937.5):c.806C>T (p.T269M) - PIGT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.917_929del pathogenic r.(?) p.(Asp306Alafs*16) g.44049217_44049229del - PIGT(NM_015937.5):c.917_929delACGTCATCCTAGG (p.D306Afs*16) - PIGT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.918dupC - r.(?) p.(Val307Argfs*13) g.44049218dupC - - - PIGT_000020 - PubMed: Lam et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.918dupC - r.(?) p.(Val307Argfs*13) g.44049218dupC - - - PIGT_000020 - PubMed: Lam et al. 2015 - - Germline - - - 0 - Philippe Campeau
-?/. - c.969C>T likely benign r.(?) p.(=) g.44049269C>T - PIGT(NM_015937.5):c.969C>T (p.T323=) - PIGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1034-103dup likely benign r.(=) p.(=) g.44049920dup - PIGT(NM_015937.5):c.1034-103dupC - PIGT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1061C>T likely benign r.(?) p.(Ala354Val) g.44050050C>T - PIGT(NM_015937.5):c.1061C>T (p.A354V) - PIGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1061C>T likely benign r.(?) p.(Ala354Val) g.44050050C>T - PIGT(NM_015937.5):c.1061C>T (p.A354V) - PIGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1067G>A likely benign r.(?) p.(Arg356Gln) g.44050056G>A - PIGT(NM_015937.5):c.1067G>A (p.R356Q) - PIGT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1079G>T - r.(?) p.(Gly360Val) g.44050068G>T - - - PIGT_000021 - PubMed: Skauli et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1079G>T - r.(?) p.(Gly360Val) g.44050068G>T - - - PIGT_000021 - PubMed: Skauli et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1096G>T - r.(?) p.(Gly366Trp) g.44050085G>T - - - PIGT_000022 - PubMed: Kohashi et al. 2018 - - Germline - - - 0 - Philippe Campeau
-?/. - c.1138G>A likely benign r.(?) p.(Ala380Thr) g.44050127G>A - PIGT(NM_015937.5):c.1138G>A (p.A380T) - PIGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1145C>T VUS r.(?) p.(Pro382Leu) g.44050134C>T - PIGT(NM_001184728.2):c.977C>T (p.(Pro326Leu), p.(Pro280Leu), p.(Pro382Leu)) - PIGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1304C>T VUS r.(?) p.(Pro435Leu) g.44052925C>T - PIGT(NM_001184728.2):c.1136C>T (p.(Pro379Leu), p.(Pro368Leu), p.(Pro333Leu), p.(Pro435Leu)) - PIGT_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1342C>T - r.(?) p.(Arg448Trp) g.44052963C>T - - - PIGT_000019 - PubMed: Nakashima et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1342C>T - r.(?) p.(Arg448Trp) g.44052963C>T - - - PIGT_000019 - PubMed: Lam et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1342C>T - r.(?) p.(Arg448Trp) g.44052963C>T - - - PIGT_000019 - PubMed: Lam et al. 2015 - - Germline - - - 0 - Philippe Campeau
?/. - c.1363G>C VUS r.(?) p.(Glu455Gln) g.44052984G>C - PIGT(NM_015937.5):c.1363G>C (p.E455Q) - PIGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 10i c.1401-2A>G - r.1401_1484del p.Ser467_Leu495delinsArg g.44053134A>G g.45424494A>G - - PIGT_000002 variant detected in 1239/1463 reads PubMed: Krawitz 2013, Journal: Krawitz 2013 - rs587777028 Germline - - - 0 - Philippe Campeau
-?/. - c.1417G>A likely benign r.(?) p.(Ala473Thr) g.44053152G>A - PIGT(NM_015937.5):c.1417G>A (p.A473T) - PIGT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.1472T>A - r.(?) p.(Leu491His) g.44053207T>A - - - PIGT_000028 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.1480A>C likely benign r.(?) p.(Ser494Arg) g.44053215A>C - PIGT(NM_001184728.2):c.1312A>C (p.(Ser438Arg), p.(Ser427Arg), p.(Ser392Arg), p.(Ser494Arg)) - PIGT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.1484+2T>A - r.spl? p.? g.44053221T>A - - - PIGT_000029 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1582G>A - r.(?) p.(Val528Met) g.44054311G>A - - - PIGT_000023 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
-?/. - c.1707C>T likely benign r.(?) p.(=) g.44054436C>T - PIGT(NM_015937.5):c.1707C>T (p.I569=) - PIGT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1730dupC - r.(?) p.(Leu578Thrfs*35) g.44054459dupC - - - PIGT_000024 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
Legend