Variant #0000651131 (NC_000003.11:g.170715458G>T, SLC2A2(NM_000340.1):c.*234C>A)

Individual ID 00293274
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.170715458G>T
DNA change (hg38) g.170997669G>T
Published as -
ISCN -
DB-ID SLC2A2_000016
Variant remarks 65 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs79424762
Origin Germline
Segregation -
Frequency 65/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 -?/. - c.*234C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294442 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq