Variant #0000669615 (NC_000002.11:g.233410388C>T, CHRNG(NM_005199.4):c.1516C>T)

Individual ID 00304798
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.233410388C>T
DNA change (hg38) g.232545678C>T
Published as -
ISCN -
DB-ID CHRNG_000050 See all 3 reported entries
Variant remarks conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs71421651
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00664 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 ?/. - c.1516C>T r.(?) p.(Pro506Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305927 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq