Variant #0000518489 (NC_000003.11:g.170716937C>A, SLC2A2(NM_000340.1):c.1087G>T)

Chromosome 3
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.170716937C>A
DNA change (hg38) g.170999148C>A
Published as SLC2A2(NM_000340.1):c.1087G>T (p.A363S, p.(Ala363Ser))
ISCN -
DB-ID SLC2A2_000003 See all 2 reported entries
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) 0.00154 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 -?/. - c.1087G>T r.(?) p.(Ala363Ser)