Variant #0000270157 (NC_000002.11:g.175614923_175614925del, CHRNA1(NM_001039523.2):c.854-14_854-12del)

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 CHRNA1(NM_001039523.3):c.854-14_854-12delTTT
ISCN -
DB-ID CHRNA1_000048 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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.(=)