Variant #0000518488 (NC_000003.11:g.170716187T>C, SLC2A2(NM_000340.1):c.1171-2A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.170716187T>C
DNA change (hg38) g.170998398T>C
Published as SLC2A2(NM_000340.1):c.1171-2A>G
ISCN -
DB-ID SLC2A2_000011
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 +/. - c.1171-2A>G r.spl? p.?