Variant #0000002544 (NC_000016.10:g.8813085C>A, PMM2(NM_000303.2):c.618C>A)

Individual ID 00000556
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8813085C>A
Published as -
Reference M K Thong et al.(2009)
DB-ID PMM2_000001
dbSNP ID rs1460691341
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PMM2 NM_000303.2 +/. 7 c.618C>A - r.(?) p.(Phe206Leu) Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000607 DNA ? PMM2 2 Nur Aisyah Athirah