Variant #0000436026 (NC_000003.11:g.49548008G>C, DAG1(NM_001165928.3):c.41G>C)

Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49548008G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID DAG1_000001
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs2131107
Origin Germline
Segregation -
Frequency 0.00-0.12
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     
DAG1 NM_001165928.3 ?/. 5 c.41G>C r.(?) p.(Trp14Ser)