All transcript variants in gene CHRNG

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

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Effect     

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     
+/. - c.753_754del - r.(?) p.(Val253Alafs*44) g.233407740_233407741del g.232543030_232543031del - - CHRNG_000008 literatue: p.(Pro251Profs*46) - - - Germline - - - 0 - Andreas Laner
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) 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) 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) g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.753_754del - r.(?) p.(Val253Alafs*44) g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - Johan den Dunnen
+/. - c.753_754del pathogenic r.(?) p.(Val253Alafs*44) 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 - VKGL-NL_Nijmegen
Legend