Variant #0000833143 (NC_000002.11:g.175624286C>T, CHRNA1(NM_001039523.2):c.119G>A)

Individual ID 00399091
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.175624286C>T
DNA change (hg38) g.174759558C>T
Published as -
ISCN -
DB-ID CHRNA1_000077
Variant remarks -
Reference PubMed: Gonzalez-Quereda 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA1 NM_001039523.2 +?/. - c.119G>A r.(?) p.(Arg40Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400336 DNA SEQ;SEQ-NG - 166-gene panel - 2 Johan den Dunnen