Variant #0000000871 (NC_000023.11:g.154904421_154904422delAG, NM_000132.3:c.5689_5690delCT (F8))

Individual ID 00000178
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154904421_154904422delAG
Published as L1897Vfs*6
Reference Maimiza Zahari et al. (2018)
DB-ID F8_000020
dbSNP ID -
Frequency 1/29
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 2020-11-23 11:21:57 +08:00 (CST)
Date last edited 2020-12-14 16:32:35 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
F8 NM_000132.3 +/. 17 c.5689_5690delCT - r.(?) p.(Leu1897Valfs*6) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000193 DNA MLPA;PCRlr;SEQ F8 24 Nuur Athirah Binti Mohd Daud