Full data view for gene CHRNG

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

5 entries on 1 page. Showing entries 1 - 5.
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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     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

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Panel size     

Owner     
+/. - 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g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished.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
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