All variants in the CHRNG gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del - - CHRNG_000008 literatue: p.(Pro251Profs*46) - - - Germline - - - 0 - Andreas Laner
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote.; Previously reported p.Pro251ProfsX46 - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - Johan den Dunnen
+?/. - c.753_754del r.(?) p.(Val253Alafs*44) - likely pathogenic g.233407740_233407741del - 753_754delCT - CHRNG_000008 - PubMed: Chakravorty 2020 - - Germline - - - 0 - Johan den Dunnen
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