Variant #0000037524 (NC_000016.9:g.31496235C>A, SLC5A2(NM_003041.3):c.294C>A)

Individual ID 00017045
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.31496235C>A
DNA change (hg38) g.31484914C>A
Published as -
ISCN -
DB-ID SLC5A2_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lei Yu
Database submission license No license selected
Created by Lei Yu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC5A2 NM_003041.3 +/. 3 c.294C>A r.(?) p.(Phe98Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017559 DNA SEQ blood - SLC5A2 1 Lei Yu