Variant #0000003191 (NC_000002.12:g.39239C>G, NM_020458.4:c.189C>G (TTC7A))

Individual ID 00000832
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.39239C>G
Published as TTC7A
Reference Intan Juliana Abd Hamid et al. (2020),dbSNP
DB-ID TTC7A_000003
dbSNP ID rs112301354
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 11:41:52 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
TTC7A NM_020458.4 ?/. - c.189C>G TTC7A r.(?) p.(Asp63Glu) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000943 DNA ? TTC7A 1 Noorzalifah Binti Mazuki