Variant #0000001121 (NC_000001.11:g.100196322G>C, NM_001918.3:c.1382C>G (DBT))

Individual ID 00000224
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.100196322G>C
Published as S461*
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID DBT_000002
dbSNP ID rs1553228626
Frequency 1/5
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-06 12:06:11 +08:00 (CST)
Date last edited 2021-08-23 15:33:38 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
DBT NM_001918.3 ?/. 11 c.1382C>G - r.(?) p.(Ser461*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000239 DNA SEQ DBT 3 Nuur Athirah Binti Mohd Daud