Variant #0000270154 (NC_000001.10:g.240070944G>A, CHRM3(NM_000740.2):c.193G>A)

Chromosome 1
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.240070944G>A
DNA change (hg38) g.239907644G>A
Published as CHRM3(NM_000740.3):c.193G>A (p.V65I)
ISCN -
DB-ID CHRM3_000001
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) 0.01771 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRM3 NM_000740.2 -/. - c.193G>A r.(?) p.(Val65Ile)