Unique variants in gene CHRNG

Information The variants shown are described using the NM_005199.4 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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 1 c.13C>T - r.(?) p.(Gln4*) g.233404470C>T g.232539760C>T - - CHRNG_000042 Homozygote; Previously reported:c.DNA 13C>T, Mature protein after signal peptide cleavage Q-18X. - - - Germline - - - - - Johan den Dunnen
?/? 1 1 c.55G>A - r.(?) p.(Gly19Arg) g.233404512G>A g.232539802G>A - - CHRNG_000053 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 2 c.56-1G>A - r.spl p.? g.233404701G>A g.232539991G>A - - CHRNG_000056 homozygote - - - Germline - - - - - Johan den Dunnen
?/? 1 2 c.82C>T - r.(?) p.(Arg28Cys) g.233404728C>T g.232540018C>T - - CHRNG_000052 Heterozygote - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.86T>A VUS r.(?) p.(Leu29Gln) g.233404732T>A - CHRNG:NM_005199.4:c.86T>A (Leu29Gln) - CHRNG_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.125G>A likely benign r.(?) p.(Arg42Gln) g.233404771G>A - CHRNG:c.125G>A (R42Q), CHRND:NM_000751.2:c.*4749G>A, NM_001256657.1:c.*4749G>A, … - CHRNG_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/+, +/. 2 2 c.136C>T pathogenic (recessive) r.(?) p.(Arg46*) g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote PubMed: Sher 2018 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.195+14C>T benign r.(=) p.(=) g.233404855C>T - CHRNG:NM_005199.4:c.195+14C>T (?) - CHRNG_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.202C>T - r.(?) p.(Arg68*) g.233405097C>T g.232540387C>T - - CHRNG_000035 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.256C>T - r.(?) p.(Arg86Cys) g.233405327C>T g.232540617C>T - - CHRNG_000047 1 more item - - - Germline - - - - - Johan den Dunnen
?/? 1 4 c.299T>G - r.(?) p.(Leu100Arg) g.233405370T>G g.232540660T>G - - CHRNG_000032 Homozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.300_308dup - r.(?) p.(Arg101_Pro103dup) g.233405371_233405379dup g.232540661_232540669dup - - CHRNG_000037 1 more item - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.320T>G - r.(?) p.(Val107Gly) g.233405391T>G g.232540681T>G - - CHRNG_000001 Homozygote - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.350+8G>T VUS r.(=) p.(=) g.233405429G>T - CHRND:NM_000751.2:c.*5407G>T, NM_001256657.1:c.*5407G>T, … - CHRNG_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 4i c.351-9T>C - r.spl? p.? g.233406075T>C g.232541365T>C - - CHRNG_000044 Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation. - - - Germline - - - - - Johan den Dunnen
?/? 1 5 c.367G>A - r.(?) p.(Glu123Lys) g.233406100G>A g.232541390G>A - - CHRNG_000051 Heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.388del - r.(?) p.(Val130Cysfs*53) g.233406121del g.232541411del 388delG - CHRNG_000049 Compoound heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.397del - r.(?) p.(Ser133Profs*50) g.233406130del g.232541420del 397delT - CHRNG_000031 Homozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.401_402del - r.(?) p.(Pro134Argfs*43) g.233406134_233406135del g.232541424_232541425del 401_402delCT - CHRNG_000048 Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34. - - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.445G>A likely benign r.(?) p.(Ala149Thr) g.233406178G>A - CHRNG:c.445G>A (A149T) - CHRNG_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/?, +/. 7 5 c.459dup - r.(?) p.(Val154Serfs*24) g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote, Homozygote; Previously reported: c.469dupA, p.Val154SerfsX24., Compound heterozygote - - - Germline - - - - - Johan den Dunnen, Andreas Laner
-/. 2 - c.507-13C>T benign r.(=) p.(=) g.233407120C>T - CHRNG:c.507-13C>T, CHRNG:NM_005199.4:c.507-13C>T (?) - CHRNG_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+ 2 7 c.715C>T - r.(?) p.(Arg239Cys) g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - - - Johan den Dunnen
+/+, +/. 6 7 c.753_754del pathogenic r.(?) p.(Val253Alafs*44) g.233407740_233407741del g.232543030_232543031del 753_754delCT, CHRNG:NM_005199.4:c.753_754del (Val253fs) - CHRNG_000008 Homozygote.; Previously reported p.Pro251ProfsX46, Compound Heterozygote, Homozygote, 2 more items - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, Andreas Laner
+?/. 1 8_81 c.806-17_806del - r.spl p.? g.233407968_233407985del g.232543258_232543275del - - CHRNG_000057 g.8532_8549del - - - Germline - - - - - Selma Demir Ulusal
+/+, +?/. 2 8 c.807dup likely pathogenic r.(?) p.(Gly270Trpfs*28) g.233407986dup g.232543276dup 807dupT, CHRNG:NM_005199.4:c.806_807insT, NM_145702.1:c.*4831_*4832insA - CHRNG_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
-/. 1 - c.921-12C>T benign r.(=) p.(=) g.233408283C>T - CHRNG:NM_005199.4:c.921-12C>T (?) - CHRNG_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 10 c.1132_1136dup - r.(?) p.(Gly380Profs*39) g.233409173_233409177dup g.232544463_232544467dup - - CHRNG_000054 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1210C>T - r.(?) p.(Gln404*) g.233409251C>T - - - CHRNG_000068 - - ClinVar-487641 - Uniparental disomy, maternal allele - 0 controls - - - Florian Erger
+/+ 1 10 c.1249G>C - r.(?) p.(Glu417Gln) g.233409290G>C g.232544580G>C - - CHRNG_000046 1 more item - - - Germline - - - - - Johan den Dunnen
?/? 1 10 c.1259C>T - r.(?) p.(Pro420Leu) g.233409491C>T g.232544781C>T - - CHRNG_000055 Heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 11 c.1292_1311del - r.(?) p.(Leu431Hisfs*22) g.233409524_233409543del g.232544814_232544833del 1292_1311del20 - CHRNG_000041 Homozygote - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1322G>A VUS r.(?) p.(Cys441Tyr) g.233409554G>A - CHRNG:NM_005199.4:c.1322G>A, NM_145702.1:c.*3263C>T - CHRNG_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 12 c.1408C>T - r.(?) p.(Arg470*) g.233410280C>T g.232545570C>T - - CHRNG_000038 1 more item - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1421G>A VUS r.(?) p.(Arg474His) g.233410293G>A - CHRNG:NM_005199.4:c.1421G>A, NM_145702.1:c.*2524C>T - CHRNG_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 12 c.1422C>T benign r.(=), r.(?) p.(=) g.233410294C>T - CHRNG:c.1422C>T (=) - CHRNG_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Uniparental disomy, maternal allele - 0.2 controls - - - VKGL-NL_Groningen, Florian Erger
?/? 1 12 c.1516C>T - r.(?) p.(Pro506Ser) g.233410388C>T g.232545678C>T - - CHRNG_000050 Heterozygote - - - Germline - - - - - Johan den Dunnen
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