Full data view for gene CHRNG

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.136C>T - r.(?) p.(Arg46*) Unknown g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - 1 Johan den Dunnen
+/. 2 c.136C>T pathogenic (recessive) r.(?) p.(Arg46*) Both (homozygous) g.233404782C>T - - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - DNA SEQ - - EVMPS 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 3 Johan den Dunnen
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