Variant #0000367732 (NC_000002.11:g.175614923_175614925del, CHRNA1(NM_001039523.2):c.854-14_854-12del)

Individual ID 00163650
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.175614923_175614925del
DNA change (hg38) g.174750195_174750197del
Published as 854-14_854-12delTTT
ISCN -
DB-ID CHRNA1_000048 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs773734065
Origin Unknown
Segregation ?
Frequency 0.3 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Florian Erger
Database submission license No license selected
Created by Florian Erger
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA1 NM_001039523.2 -/. - c.854-14_854-12del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger