Variant #0000688981 (NC_000003.11:g.170725028_170725029insCCGA, SLC2A2(NM_000340.1):c.521_522insCGGT)

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.170725028_170725029insCCGA
DNA change (hg38) -
Published as SLC2A2(NM_000340.1):c.521_522insCGGT (p.M174Ifs*6)
ISCN -
DB-ID SLC2A2_000017
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A2 NM_000340.1 +/. - c.521_522insCGGT r.(?) p.(Met174IlefsTer6)