Variant #0000299536 (NC_000003.11:g.170715835G>C, SLC2A2(NM_000340.1):c.1432C>G)

Chromosome 3
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.170715835G>C
DNA change (hg38) g.170998046G>C
Published as SLC2A2(NM_000340.1):c.1432C>G (p.L478V)
ISCN -
DB-ID SLC2A2_000002
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) 0.00104 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 ?/. - c.1432C>G r.(?) p.(Leu478Val)