Variant #0000002525 (NC_000011.10:g.112233178C>T, NM_000317.2:c.259C>T (PTS))

Individual ID 00000547
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112233178C>T
Published as -
Reference Yen-Hui Chiu et al.(2012)
DB-ID PTS_000001
dbSNP ID rs104894276
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 2021-03-25 12:08:29 +08:00 (CST)
Date last edited 2021-08-01 13:34:14 +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     
PTS NM_000317.2 +/. - c.259C>T - r.(?) p.(Pro87Ser) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000598 DNA PCR;SEQ PTS 3 Nur Aisyah Athirah