Variant #0000480517 (NC_000001.10:g.240071784T>C, CHRM3(NM_000740.2):c.1033T>C)

Individual ID 00231412
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.240071784T>C
DNA change (hg38) g.239908484T>C
Published as -
ISCN -
DB-ID CHRM3_000002
Variant remarks -
Reference PubMed: Cox 2019
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 Timothy Cox
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     
CHRM3 NM_000740.2 +?/. - c.1033T>C r.(?) p.(Ser345Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232511 DNA SEQ-NG - - GDF11 16 Timothy Cox