Variant #0000000955 (NC_000003.12:g.15644435_15644437del, NM_000060.4:c.579_581del (BTD))

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.15644435_15644437del
Published as -
Reference M Mardhiah et al. (2019)
DB-ID BTD_000003
dbSNP ID -
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
Date created 2020-11-26 16:01:43 +08:00 (CST)
Date last edited 2020-12-14 17:04:16 +08:00 (CST)
Options




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.579_581del - r.(?) p.(Gln193_Phe194delinsHis) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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