Variant #0000002243 (NC_000002.12:g.27518370T>C, NC_000002.12(NM_001486.3):c.1423-418T>C (GCKR))

Individual ID 00000475
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.27518370T>C
Published as -
Reference Hwa-Li Tan et al.(2014)
DB-ID GCKR_000001 See all 6 reported entries
dbSNP ID rs780094
Frequency 64/198
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 2021-03-02 12:34:23 +08:00 (CST)
Date last edited 2021-08-01 13:12:00 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GCKR NM_001486.3 +/. - c.1423-418T>C - r.(=) p.(=) -
GCKR XM_011532763.1 ?/. - c.*10733T>C - r.(=) p.(=) -
GCKR XM_017003796.1 ?/. - c.853-418T>C - r.(=) p.(=) -
GCKR XM_017003797.1 ?/. - c.853-418T>C - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000521 DNA ? GCKR 2 Nur Aisyah Athirah