Variant #0000353048 (NC_000002.11:g.175614855G>A, CHRNA1(NM_001039523.2):c.896C>T)

Individual ID 00152964
Chromosome 2
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.175614855G>A
DNA change (hg38) -
Published as 761C>T (T254I)
ISCN -
DB-ID CHRNA1_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Chauplannaz 1994
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/. 8 c.896C>T r.(?) p.(Thr299Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153827 DNA;RNA RT-PCR;SEQ;SSCA - - CHRNA1 1 Johan den Dunnen