Variant #0000002919 (NC_000007.14:g.714548G>A, NM_152744.4:c.2161G>A (SDK1))

Individual ID 00000714
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.714548G>A
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID SDK1_000001 See all 2 reported entries
dbSNP ID rs138116831
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 2021-06-27 12:22:10 +08:00 (CST)
Date last edited 2021-08-01 13:12:08 +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     
SDK1 NM_152744.4 ?/. 15 c.2161G>A - r.(?) p.(Val721Ile) Benign



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000801 DNA PCR;SEQ SDK1 2 Nur Aisyah Athirah