Unique variants in the CHRNG gene

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

48 entries on 1 page. Showing entries 1 - 48.
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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 - c.-4590G>A r.(?) p.(=) - likely benign g.233399868G>A g.232535158G>A CHRND(NM_000751.2):c.1400G>A (p.(Arg467His)) - CHRND_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-4548T>C r.(?) p.(=) - VUS g.233399910T>C g.232535200T>C CHRND(NM_000751.2):c.1442T>C (p.M481T) - CHRND_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.13C>T r.(?) p.(Gln4*) - pathogenic 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) - VUS g.233404512G>A g.232539802G>A - - CHRNG_000053 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+?/., +/+ 2 2 c.56-1G>A r.spl p.? ACMG likely pathogenic (recessive), pathogenic g.233404701G>A g.232539991G>A - - CHRNG_000056 homozygote Ravenscroft 2020, submitted - - Germline - - - - - Gianina Ravenscroft, Johan den Dunnen
?/? 1 2 c.82C>T r.(?) p.(Arg28Cys) - VUS g.233404728C>T g.232540018C>T - - CHRNG_000052 Heterozygote - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.86T>A r.(?) p.(Leu29Gln) - VUS g.233404732T>A g.232540022T>A - - CHRNG_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.125G>A r.(?) p.(Arg42Gln) - likely benign g.233404771G>A g.232540061G>A CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln), p.R42Q) - CHRNG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/+, +/. 3 2 c.136C>T r.(?) p.(Arg46*) ACMG pathogenic, pathogenic (recessive) g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote PubMed: Sher 2018, Ravenscroft 2020, submitted - - Germline yes - - - - Johan den Dunnen, Gianina Ravenscroft
-/. 1 - c.195+14C>T r.(=) p.(=) - benign g.233404855C>T g.232540145C>T - - CHRNG_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.202C>T r.(?) p.(Arg68*) - pathogenic g.233405097C>T g.232540387C>T - - CHRNG_000035 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.256C>T r.(?) p.(Arg86Cys) - pathogenic g.233405327C>T g.232540617C>T - - CHRNG_000047 1 more item - - - Germline - - - - - Johan den Dunnen
?/? 1 4 c.299T>G r.(?) p.(Leu100Arg) - VUS g.233405370T>G g.232540660T>G - - CHRNG_000032 Homozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.301_309dup r.(?) p.(Arg101_Pro103dup) - pathogenic g.233405372_233405380dup g.232540662_232540670dup - - CHRNG_000037 1 more item - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.320T>G r.(?) p.(Val107Gly) - pathogenic g.233405391T>G g.232540681T>G - - CHRNG_000001 Homozygote - - - Germline - - - - - Johan den Dunnen
?/? 1 4i c.351-9T>C r.spl? p.(=) - VUS g.233406075T>C g.232541365T>C - - CHRNG_000044 Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation. - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.366C>A r.(?) p.(Phe122Leu) - VUS g.233406099C>A - CHRNG(NM_005199.5):c.366C>A (p.F122L) - CHRND_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 5 c.367G>A r.(?) p.(Glu123Lys) - VUS g.233406100G>A g.232541390G>A - - CHRNG_000051 Heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.388del r.(?) p.(Val130Cysfs*53) - pathogenic g.233406121del g.232541411del 388delG - CHRNG_000049 Compoound heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.397del r.(?) p.(Ser133Profs*50) - pathogenic g.233406130del g.232541420del 397delT - CHRNG_000031 Homozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.401_402del r.(?) p.(Pro134Argfs*43) - pathogenic g.233406134_233406135del g.232541424_232541425del 401_402delCT - CHRNG_000048 Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34. - - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.420G>A r.(?) p.(Trp140*) ACMG likely pathogenic g.233406153G>A g.232541443G>A - - CHRNG_000084 ACMG grading: PVS1,PM2 - - rs201762781 Germline - - - - - Andreas Laner
-?/. 3 - c.445G>A r.(?) p.(Ala149Thr) - likely benign g.233406178G>A g.232541468G>A CHRNG(NM_005199.4):c.445G>A (p.A149T) - CHRNG_000060 185 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs2289080 Germline, CLASSIFICATION record - 185/2795 individuals, 8/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
+/., +/+, +/? 12 5 c.459dup r.(?) p.(Val154Serfs*24), p.(Val154SerfsTer24) ACMG pathogenic (recessive), pathogenic g.233406192dup g.232541482dup c.459dupA, 459dupA - CHRNG_000033 VKGL data sharing initiative Nederland, Homozygote, Compound heterozygote, 1 more item Ravenscroft 2020, submitted, PubMed: Todd 2015 - - Germline, CLASSIFICATION record - - - - - Gianina Ravenscroft, VKGL-NL_Nijmegen, Johan den Dunnen, Andreas Laner
-?/. 1 - c.471C>T r.(?) p.(Phe157=) - likely benign g.233406204C>T - CHRNG(NM_005199.4):c.471C>T (p.F157=) - CHRND_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.507-13C>T r.(=) p.(=) - benign g.233407120C>T g.232542410C>T CHRNG(NM_005199.5):c.507-13C>T - CHRNG_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+ 2 7 c.715C>T r.(?) p.(Arg239Cys) - pathogenic 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
+/+, +/. 5 7 c.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote.; Previously reported p.Pro251ProfsX46, Compound Heterozygote, Homozygote, 1 more item - - - Germline - - - - - Johan den Dunnen, Andreas Laner
?/. 1 - c.754T>C r.(?) p.(Cys252Arg) - VUS g.233407741T>C g.232543031T>C CHRNG(NM_005199.5):c.754T>C (p.C252R) - CHRNG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 8_81 c.806-17_806del r.spl p.? - likely pathogenic g.233407968_233407985del g.232543258_232543275del - - CHRNG_000057 g.8532_8549del - - - Germline - - - - - Selma Demir Ulusal
+/+, ?/. 2 8 c.807dup r.(?) p.(Gly270Trpfs*28), p.(Gly270TrpfsTer28) - pathogenic, VUS g.233407986dup g.232543276dup 807dupT, CHRNG(NM_005199.4):c.806_807insT (p.(Gly270TrpfsTer28)) - CHRNG_000045 VKGL data sharing initiative Nederland, 1 more item - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
-/. 1 - c.921-12C>T r.(=) p.(=) - benign g.233408283C>T g.232543573C>T - - CHRNG_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.951C>A r.(?) p.(Ile317=) - likely benign g.233408325C>A g.232543615C>A CHRNG(NM_005199.4):c.951C>A (p.(=)) - CHRNG_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 10 c.1132_1136dup r.(?) p.(Gly380Profs*39) - pathogenic g.233409173_233409177dup g.232544463_232544467dup - - CHRNG_000054 compound heterozygote - - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1210C>T r.(?) p.(Gln404*) - pathogenic g.233409251C>T g.232544541C>T - - CHRNG_000068 - - ClinVar-487641 - Uniparental disomy, maternal allele - 0 controls - - - Florian Erger
+/+ 1 10 c.1249G>C r.(?) p.(Glu417Gln) - pathogenic g.233409290G>C g.232544580G>C - - CHRNG_000046 1 more item - - - Germline - - - - - Johan den Dunnen
?/? 1 10 c.1259C>T r.(?) p.(Pro420Leu) - VUS g.233409491C>T g.232544781C>T - - CHRNG_000055 Heterozygote - - - Germline - - - - - Johan den Dunnen
+/+ 1 11 c.1292_1311del r.(?) p.(Leu431Hisfs*22) - pathogenic g.233409524_233409543del g.232544814_232544833del 1292_1311del20 - CHRNG_000041 Homozygote - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1381G>A r.(?) p.(Gly461Arg) - VUS g.233410253G>A g.232545543G>A - - CHRNG_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 12 c.1408C>T r.(?) p.(Arg470*) - pathogenic g.233410280C>T g.232545570C>T - - CHRNG_000038 1 more item - - - Germline - - - - - Johan den Dunnen
-/. 2 12 c.1422C>T r.(?) p.(Arg474=), p.(=) - benign g.233410294C>T g.232545584C>T CHRNG(NM_005199.5):c.1422C>T (p.R474=) - CHRNG_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Uniparental disomy, maternal allele - 0.2 controls - - - VKGL-NL_Groningen, Florian Erger
?/., ?/? 3 12 c.1516C>T r.(?) p.(Pro506Ser) - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 conflicting interpretations of pathogenicity; 58 heterozygous; Clinindb (India), Heterozygote, 1 more item Faruq 2020, submtted - rs71421651 Germline - 58/2795 individuals, 2/2795 individuals - - - Mohammed Faruq, Johan den Dunnen
-?/. 1 - c.*2971_*2976del r.(=) p.(=) - likely benign g.233413397_233413402del g.232548687_232548692del TIGD1(NM_145702.1):c.1195_1200del (p.(Leu399_Thr400del)) - TIGD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3718G>A r.(=) p.(=) - likely benign g.233414144G>A g.232549434G>A TIGD1(NM_145702.1):c.449C>T (p.(Ala150Val)) - CHRNG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3725T>C r.(=) p.(=) - likely benign g.233414151T>C g.232549441T>C TIGD1(NM_145702.1):c.442A>G (p.(Ile148Val)) - CHRNG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3734A>G r.(=) p.(=) - likely benign g.233414160A>G g.232549450A>G TIGD1(NM_145702.1):c.433T>C (p.(Phe145Leu)) - CHRNG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3753C>G r.(=) p.(=) - likely benign g.233414179C>G g.232549469C>G TIGD1(NM_145702.1):c.414G>C (p.(Arg138Ser)) - CHRNG_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3943C>T r.(=) p.(=) - likely benign g.233414369C>T g.232549659C>T TIGD1(NM_145702.1):c.224G>A (p.(Arg75Gln)) - TIGD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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