Variant #0000436027 (NC_000003.11:g.49548294T>C, DAG1(NM_001165928.3):c.285+42T>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.49548294T>C
DNA change (hg38) g.49510861T>C
Published as -
ISCN -
DB-ID DAG1_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2329024
Origin Germline
Segregation -
Frequency 0.88-1.00
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.99401 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 ?/. 5i c.285+42T>C r.(?) p.(=)