All variants in the CHRNG gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
?/? 4i c.351-9T>C r.spl? p.(=) - VUS g.233406075T>C g.232541365T>C - - CHRNG_000044 Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation. - - - Germline - - - 0 - Johan den Dunnen
+?/. - c.351-9T>C r.(?) p.(?) - likely pathogenic g.233406075T>C g.232541365T>C CHRNG c.351-9T>C, - CHRNG_000044 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - 0 - LOVD
Legend   How to query