Variant #0000001124 (NC_000001.11:g.100249765C>G, DBT(NM_001918.3):c.51+5G>C)

Individual ID 00000225
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.100249765C>G
Published as -
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID DBT_000004
dbSNP ID rs398123670
Frequency 2/10
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
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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 ?/. 1i c.51+5G>C - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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