Variant #0000003038 (NC_000023.11:g.39911A>G, NM_001129765.2:c.602A>G (NSDHL))

Individual ID 00000771
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.39911A>G
Published as -
Reference Min Moon Tang et al.(2020)
DB-ID NSDHL_000001
dbSNP ID rs1011260787
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
Date created 2021-07-08 16:02:28 +08:00 (CST)
Date last edited 2021-09-12 15:16:08 +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     
NSDHL NM_001129765.2 +/. - c.602A>G - r.(?) p.(His201Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000865 DNA SEQ NSDHL 1 Nur Aisyah Athirah