Variant #0000002416 (NC_000017.11:g.80105030C>G, GAA(NM_000152.4):c.444C>G)

Individual ID 00000525
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80105030C>G
Published as -
Reference Hiew Fu Liong et al.(2014)
DB-ID GAA_000005
dbSNP ID rs972668240
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GAA NM_000152.4 +/. 2 c.444C>G - r.(?) p.(Tyr148*) pathogenic (recessive)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000573 DNA ? GAA 2 Nur Aisyah Athirah