Variant #0000001123 (NC_000001.11:g.100206458G>C, NM_001918.3:c.1196C>G (DBT))

Individual ID 00000225
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.100206458G>C
Published as S399C
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID DBT_000003 See all 3 reported entries
dbSNP ID rs1564433154
Frequency 6/10
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 12:18:57 +08:00 (CST)
Date last edited 2021-08-23 15:41:26 +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 ?/. 9 c.1196C>G - r.(?) p.(Ser399Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000240 DNA PCR;SEQ DBT 3 Nuur Athirah Binti Mohd Daud