Full data view for gene CHRNG

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

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.13C>T - r.(?) p.(Gln4*) Unknown g.233404470C>T g.232539760C>T - - CHRNG_000042 Homozygote; Previously reported:c.DNA 13C>T, Mature protein after signal peptide cleavage Q-18X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 - - - Oman - - 0 - - 1 Johan den Dunnen
?/? 1 c.55G>A - r.(?) p.(Gly19Arg) Unknown g.233404512G>A g.232539802G>A - - CHRNG_000053 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 2 c.56-1G>A - r.spl p.? Unknown g.233404701G>A g.232539991G>A - - CHRNG_000056 homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - Ireland Irish - 0 - - 1 Johan den Dunnen
?/? 2 c.82C>T - r.(?) p.(Arg28Cys) Unknown g.233404728C>T g.232540018C>T - - CHRNG_000052 Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Brazil - - 0 - - 1 Johan den Dunnen
?/. - c.86T>A VUS r.(?) p.(Leu29Gln) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>A likely benign r.(?) p.(Arg42Gln) Unknown g.233404771G>A - CHRNG:c.125G>A (R42Q) - CHRNG_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>A likely benign r.(?) p.(Arg42Gln) Unknown g.233404771G>A - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.136C>T - r.(?) p.(Arg46*) Unknown g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - 1 Johan den Dunnen
+/. 2 c.136C>T pathogenic (recessive) r.(?) p.(Arg46*) Both (homozygous) g.233404782C>T - - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - DNA SEQ - - EVMPS 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 3 Johan den Dunnen
-/. - c.195+14C>T benign r.(=) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.202C>T - r.(?) p.(Arg68*) Unknown g.233405097C>T g.232540387C>T - - CHRNG_000035 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.256C>T - r.(?) p.(Arg86Cys) Unknown g.233405327C>T g.232540617C>T - - CHRNG_000047 Compound heterozygote; Previously reported:cDNA 256C->T, Mature protein after signal peptide cleavage R64C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 - - - Switzerland - - 0 - - 1 Johan den Dunnen
?/? 4 c.299T>G - r.(?) p.(Leu100Arg) Unknown g.233405370T>G g.232540660T>G - - CHRNG_000032 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - (Spanish / Portuguese ancestry) - 0 - - 1 Johan den Dunnen
+/+ 4 c.300_308dup - r.(?) p.(Arg101_Pro103dup) Unknown g.233405371_233405379dup g.232540661_232540669dup - - CHRNG_000037 compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3). - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - 1 Johan den Dunnen
+/+ 4 c.320T>G - r.(?) p.(Val107Gly) Unknown g.233405391T>G g.232540681T>G - - CHRNG_000001 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - - Arab - 0 - - 1 Johan den Dunnen
?/. - c.350+8G>T VUS r.(=) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4i c.351-9T>C - r.spl? p.? Unknown g.233406075T>C g.232541365T>C - - CHRNG_000044 Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 - - - Pakistan Pakistani - 0 - - 1 Johan den Dunnen
?/? 5 c.367G>A - r.(?) p.(Glu123Lys) Unknown g.233406100G>A g.232541390G>A - - CHRNG_000051 Heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - Turkey Turkish - 0 - - 1 Johan den Dunnen
+/+ 5 c.388del - r.(?) p.(Val130Cysfs*53) Unknown g.233406121del g.232541411del 388delG - CHRNG_000049 Compoound heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/+ 5 c.397del - r.(?) p.(Ser133Profs*50) Unknown g.233406130del g.232541420del 397delT - CHRNG_000031 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - White Mixed (South American ancestry) - 0 - - 1 Johan den Dunnen
+/+ 5 c.401_402del - r.(?) p.(Pro134Argfs*43) Unknown g.233406134_233406135del g.232541424_232541425del 401_402delCT - CHRNG_000048 Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
-?/. - c.445G>A likely benign r.(?) p.(Ala149Thr) Unknown g.233406178G>A - CHRNG:c.445G>A (A149T) - CHRNG_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.459dup - r.(?) p.(Val154Serfs*24) Parent #1 g.233406192dup g.232541482dup - - CHRNG_000033 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/+ 5 c.459dup - r.(?) p.(Val154Serfs*24) Unknown g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup - r.(?) p.(Val154Serfs*24) Unknown g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup - r.(?) p.(Val154Serfs*24) Unknown g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote; Previously reported: c.469dupA, p.Val154SerfsX24. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup - r.(?) p.(Val154Serfs*24) Unknown g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/? 5 c.459dup - r.(?) p.(Val154Serfs*24) Unknown g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup - r.(?) p.(Val154Serfs*24) Maternal (confirmed) g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.507-13C>T benign r.(=) p.(=) Unknown g.233407120C>T - CHRNG:c.507-13C>T - CHRNG_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.507-13C>T benign r.(=) p.(=) Unknown g.233407120C>T - CHRNG:NM_005199.4:c.507-13C>T (?) - CHRNG_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys) Unknown g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - Lebanon - - 0 - - 1 Johan den Dunnen
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys) Unknown g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.753_754del - r.(?) p.(Val253Alafs*44) Parent #1 g.233407740_233407741del g.232543030_232543031del - - CHRNG_000008 literatue: p.(Pro251Profs*46) - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) Unknown g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote.; Previously reported p.Pro251ProfsX46 - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 - - - Turkey Turkish - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) Unknown g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) Unknown g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) Paternal (inferred) g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.753_754del pathogenic r.(?) p.(Val253Alafs*44) Unknown g.233407740_233407741del - CHRNG:NM_005199.4:c.753_754del (Val253fs) - CHRNG_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8_81 c.806-17_806del - r.spl p.? Both (homozygous) g.233407968_233407985del g.232543258_232543275del - - CHRNG_000057 g.8532_8549del - - - Germline - - - 0 - DNA SEQ - - EVMPS - - - M yes Turkey Turkish - 0 - - 1 Selma Demir Ulusal
+/+ 8 c.807dup - r.(?) p.(Gly270Trpfs*28) Unknown g.233407986dup g.232543276dup 807dupT - CHRNG_000045 Homozygote; Previously reported:cDNA 807insT, Mature protein after signal peptide cleavage248-274, 275X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 - - - Lebanon - - 0 - - 1 Johan den Dunnen
+?/. - c.807dup likely pathogenic r.(?) p.(Gly270Trpfs*28) Unknown g.233407986dup - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.921-12C>T benign r.(=) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1132_1136dup - r.(?) p.(Gly380Profs*39) Unknown g.233409173_233409177dup g.232544463_232544467dup - - CHRNG_000054 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.1210C>T - r.(?) p.(Gln404*) Maternal (confirmed) g.233409251C>T - - - CHRNG_000068 - - ClinVar-487641 - Uniparental disomy, maternal allele - 0 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
+/+ 10 c.1249G>C - r.(?) p.(Glu417Gln) Unknown g.233409290G>C g.232544580G>C - - CHRNG_000046 Homozygote; Previously reported:cDNA 1249G->C, Mature protein after signal peptide cleavage395-418, 419X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected deceased, cause unspecified. - - Lebanon - - 0 - - 1 Johan den Dunnen
?/? 10 c.1259C>T - r.(?) p.(Pro420Leu) Unknown g.233409491C>T g.232544781C>T - - CHRNG_000055 Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Somalia Somalian - 0 - - 1 Johan den Dunnen
+/+ 11 c.1292_1311del - r.(?) p.(Leu431Hisfs*22) Unknown g.233409524_233409543del g.232544814_232544833del 1292_1311del20 - CHRNG_000041 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - Algeria Algerian - 0 - - 1 Johan den Dunnen
?/. - c.1322G>A VUS r.(?) p.(Cys441Tyr) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1408C>T - r.(?) p.(Arg470*) Unknown g.233410280C>T g.232545570C>T - - CHRNG_000038 compound heterozygote. ; Previously reported:CDNA 1408C->T, mature protein after signal peptide cleavage R448X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - 1 Johan den Dunnen
?/. - c.1421G>A VUS r.(?) p.(Arg474His) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1422C>T benign r.(=) p.(=) Unknown g.233410294C>T - CHRNG:c.1422C>T (=) - CHRNG_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 12 c.1422C>T - r.(?) p.(=) Unknown g.233410294C>T - - - CHRNG_000064 - - - - Uniparental disomy, maternal allele - 0.2 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
?/? 12 c.1516C>T - r.(?) p.(Pro506Ser) Unknown g.233410388C>T g.232545678C>T - - CHRNG_000050 Heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - 1 Johan den Dunnen
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