Variant #0000681629 (NC_000020.10:g.45354853C>G, NM_030777.3:c.1178C>G (SLC2A10))

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45354853C>G
DNA change (hg38) -
Published as SLC2A10(NM_030777.4):c.1178C>G (p.S393C)
ISCN -
DB-ID SLC2A10_000065
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) 1.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A10 NM_030777.3 -?/. - c.1178C>G r.(?) p.(Ser393Cys)


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