Variant #0000651132 (NC_000003.11:g.170732328C>T, SLC2A2(NM_000340.1):c.301G>A)

Individual ID 00293275
Chromosome 3
Allele Parent #1
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.170732328C>T
DNA change (hg38) g.171014539C>T
Published as -
ISCN -
DB-ID SLC2A2_000006 See all 2 reported entries
Variant remarks 12 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs1800572
Origin Germline
Segregation -
Frequency 12/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00152 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 -?/. - c.301G>A r.(?) p.(Val101Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294443 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq