Unique variants in gene PIGT

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

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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 _1_11_ c.0 r.0 p.0 - pathogenic g.(36500000_36600000)_(44600000_44700000)del - - - PIGT_000003 8 Mb deletion (FISH 92% granulocyte interphase nuclei) PubMed: Krawitz 2013, Journal: Krawitz 2013 - - Somatic - - - - - Johan den Dunnen
-?/. 2 - c.14T>C r.(?) p.(Met5Thr) - likely benign g.44044810T>C - PIGT(NM_001184728.2):c.14T>C (p.(Met5Thr)), PIGT(NM_015937.5):c.14T>C (p.M5T) - PIGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 2 - c.250G>T r.(?) p.(Glu84*) - - g.44045219G>T - - - PIGT_000018 - PubMed: Nakashima et al. 2014, PubMed: Kohashi et al. 2018 - - Germline - - - - - Philippe Campeau
-?/. 2 - c.367G>T r.(?) p.(Val123Leu) - likely benign g.44047493G>T - PIGT(NM_015937.5):c.367G>T (p.V123L) - PIGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/+? 1 - c.494-2A>G r.spl? p.? - - g.44047933A>G - - - PIGT_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
-/. 3 - c.533G>A r.(?) p.(Arg178Gln) - benign g.44047974G>A g.45419334G>A PIGT(NM_015937.5):c.533G>A (p.R178Q) - PIGT_000006 29 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs80158178 Germline, CLASSIFICATION record - 29/2795 individuals, 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
+/. 2 4 c.547A>C r.(?) p.(Thr183Pro) - - g.45419348A>C, g.44047988A>C - NM_015937.5:c.547A>C, p.Thr183Pro - PIGT_000001 CADD score: 26.4, 1 more item PubMed: Kvarnung 2013 - rs587777027 Germline yes - - - - Philippe Campeau
+/. 2 4 c.550G>A r.(?) p.(Glu184Lys) - - g.44047991G>A - - - PIGT_000026 1 more item - - rs774753616 Germline - MAF: 0.00001626 - - - Philippe Campeau
+?/. 1 - c.659T>C r.(?) p.(Val220Ala) - likely pathogenic g.44048208T>C - - - PIGT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.667C>T r.(?) p.(Arg223Cys) - likely benign g.44048216C>T - PIGT(NM_001184728.2):c.499C>T (p.(Arg167Cys)) - PIGT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.675T>C r.(?) p.(=) - likely benign g.44048224T>C - PIGT(NM_015937.5):c.675T>C (p.V225=) - PIGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.689G>A r.(?) p.(Arg230His) - likely benign g.44048783G>A - PIGT(NM_015937.5):c.689G>A (p.R230H) - PIGT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.709G>C r.(?) p.(Glu237Gln) - - g.44048803G>C - - - PIGT_000025 - PubMed: Pagnamenta et al. 2017 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.770-14G>A r.(=) p.(=) - likely benign g.44048958G>A - PIGT(NM_015937.5):c.770-14G>A - PIGT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.770A>C r.(?) p.(Asp257Ala) - benign g.44048972A>C g.45420332A>C PIGT(NM_015937.5):c.770A>C (p.D257A) - PIGT_000009 66 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs61753669 Germline, CLASSIFICATION record - 66/2794 individuals, 2/2794 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
?/. 1 - c.806C>T r.(?) p.(Thr269Met) - VUS g.44049008C>T - PIGT(NM_015937.5):c.806C>T (p.T269M) - PIGT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.917_929del r.(?) p.(Asp306Alafs*16) - pathogenic g.44049217_44049229del - PIGT(NM_015937.5):c.917_929delACGTCATCCTAGG (p.D306Afs*16) - PIGT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.918dupC r.(?) p.(Val307Argfs*13) - - g.44049218dupC - - - PIGT_000020 - PubMed: Lam et al. 2015 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.969C>T r.(?) p.(=) - likely benign g.44049269C>T - PIGT(NM_015937.5):c.969C>T (p.T323=) - PIGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1034-103dup r.(=) p.(=) - likely benign g.44049920dup - PIGT(NM_015937.5):c.1034-103dupC - PIGT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1061C>T r.(?) p.(Ala354Val) - likely benign g.44050050C>T - PIGT(NM_015937.5):c.1061C>T (p.A354V) - PIGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.1067G>A r.(?) p.(Arg356Gln) - likely benign g.44050056G>A - PIGT(NM_015937.5):c.1067G>A (p.R356Q) - PIGT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 2 - c.1079G>T r.(?) p.(Gly360Val) - - g.44050068G>T - - - PIGT_000021 - PubMed: Skauli et al. 2016 - - Germline - - - - - Philippe Campeau
+?/. 1 - c.1096G>T r.(?) p.(Gly366Trp) - - g.44050085G>T - - - PIGT_000022 - PubMed: Kohashi et al. 2018 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.1138G>A r.(?) p.(Ala380Thr) - likely benign g.44050127G>A - PIGT(NM_015937.5):c.1138G>A (p.A380T) - PIGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1165G>A r.(?) p.(Val389Ile) - VUS g.44050154G>A - - - PIGT_000042 - PubMed: Marcogliese 2018 - - Germline - - - - - Johan den Dunnen
+?/. 3 - c.1342C>T r.(?) p.(Arg448Trp) - - g.44052963C>T - - - PIGT_000019 - PubMed: Nakashima et al. 2014, PubMed: Lam et al. 2015 - - Germline - - - - - Philippe Campeau
?/. 1 - c.1363G>C r.(?) p.(Glu455Gln) - VUS g.44052984G>C - PIGT(NM_015937.5):c.1363G>C (p.E455Q) - PIGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 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 - - - - - Philippe Campeau
-?/. 1 - c.1416C>T r.(?) p.(=) - likely benign g.44053151C>T - PIGT(NM_015937.5):c.1416C>T (p.S472=) - PIGT_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1417G>A r.(?) p.(Ala473Thr) - likely benign g.44053152G>A - PIGT(NM_015937.5):c.1417G>A (p.A473T) - PIGT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 - c.1472T>A r.(?) p.(Leu491His) - - g.44053207T>A - - - PIGT_000028 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/+? 1 - c.1484+2T>A r.spl? p.? - - g.44053221T>A - - - PIGT_000029 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - - - Philippe Campeau
+?/. 1 - c.1582G>A r.(?) p.(Val528Met) - - g.44054311G>A - - - PIGT_000023 - PubMed: Pagnamenta et al. 2017 - - Germline - - - - - Philippe Campeau
-?/. 1 - c.1707C>T r.(?) p.(=) - likely benign g.44054436C>T - PIGT(NM_015937.5):c.1707C>T (p.I569=) - PIGT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1730dupC r.(?) p.(Leu578Thrfs*35) - - g.44054459dupC - - - PIGT_000024 - PubMed: Pagnamenta et al. 2017 - - Germline - - - - - Philippe Campeau
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