All variants in the CHRNG gene

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
+/. - c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup - - CHRNG_000033 - - - - Germline - - - 0 - Andreas Laner
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote; Previously reported: c.469dupA, p.Val154SerfsX24. - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound heterozygote - - - Germline - - - 0 - Johan den Dunnen
+/? 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound Heterozygote - - - Germline - - - 0 - Johan den Dunnen
+/. - c.459dup r.(?) p.(Val154Serfs*24) - pathogenic (recessive) g.233406192dup g.232541482dup 459dupA - CHRNG_000033 - PubMed: Todd 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.459dup r.(?) p.(Val154SerfsTer24) - pathogenic g.233406192dup g.232541482dup - - CHRNG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.459dup r.(?) p.(Val154Serfs*24) ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
+/. - c.459dup r.(?) p.(Val154Serfs*24) ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
+/. - c.459dup r.(?) p.(Val154Serfs*24) ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
+?/. - c.459dup r.(?) p.(Val154SerfsTer24) - likely pathogenic g.233406192dup g.232541482dup - - CHRNG_000033 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
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