All variants in the CHRNG gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/? 12 c.1516C>T r.(?) p.(Pro506Ser) - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 Heterozygote - - - Germline - - - 0 - Johan den Dunnen
?/. - c.1516C>T r.(?) p.(Pro506Ser) - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 conflicting interpretations of pathogenicity; 58 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71421651 Germline - 58/2795 individuals - 0 - Mohammed Faruq
?/. - c.1516C>T r.(?) p.(Pro506Ser) - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71421651 Germline - 2/2795 individuals - 0 - Mohammed Faruq
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