Variant #0000807368 (NC_000016.9:g.31500257C>T, SLC5A2(NM_003041.3):c.1337C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.31500257C>T
DNA change (hg38) -
Published as SLC5A2(NM_003041.3):c.1337C>T (p.A446V)
ISCN -
DB-ID C16orf58_000005
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) 0 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC5A2 NM_003041.3 ?/. - c.1337C>T r.(?) p.(Ala446Val)
C16orf58 NM_022744.2 ?/. - c.*1899G>A r.(=) p.(=)