Variant #0000000957 (NC_000003.12:g.15645186G>C, BTD(NM_000060.4):c.1330G>C)

Individual ID 00000194
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15645186G>C
Published as c.1130G > A p.(Asp444His)
Reference M Mardhiah et al. (2019)
DB-ID BTD_000005
dbSNP ID rs587779489
Frequency 1/6
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     
BTD NM_000060.4 +/. 4 c.1330G>C - r.(?) p.(Asp444His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000209 DNA PCR;SEQ BTD 5 Nuur Athirah Binti Mohd Daud