Variant #0000725759 (NC_000016.9:g.31500501G>A, SLC5A2(NM_003041.3):c.1507G>A)

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.31500501G>A
DNA change (hg38) -
Published as SLC5A2(NM_003041.4):c.1507G>A (p.E503K)
ISCN -
DB-ID SLC5A2_000033
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC5A2 NM_003041.3 +/. - c.1507G>A r.(?) p.(Glu503Lys)