Variant #0000002719 (NC_000014.9:g.30650C>T, NM_138420.4:c.12743C>T (AHNAK2))

Individual ID 00000613
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.30650C>T
Published as -
Reference Shelisa Tey et al.(2019)
DB-ID AHNAK2_000001
dbSNP ID rs375578054
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 2021-05-05 12:23:03 +08:00 (CST)
Date last edited 2021-08-01 14:18:28 +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     
AHNAK2 NM_138420.4 +/. 7 c.12743C>T - r.(?) p.(Pro4248Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000679 DNA IHC;SEQ;TaqMan AHNAK2 2 Nur Aisyah Athirah