Variant #0000308402 (NC_000003.11:g.170723824C>T, SLC2A2(NM_000340.1):c.683G>A)

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.170723824C>T
DNA change (hg38) g.171006035C>T
Published as SLC2A2(NM_000340.1):c.683G>A (p.R228Q)
ISCN -
DB-ID SLC2A2_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 -?/. - c.683G>A r.(?) p.(Arg228Gln)