Variant #0000608186 (NC_000003.11:g.101038540C>T, IMPG2(NM_016247.3):c.222G>A)

Chromosome 3
Allele Unknown
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.101038540C>T
DNA change (hg38) g.101319696C>T
Published as IMPG2(NM_016247.3):c.222G>A (p.Q74=)
ISCN -
DB-ID IMPG2_000086
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 -?/. - c.222G>A r.(?) p.(Gln74=)
SENP7 NM_020654.3 -?/. - c.*6247G>A r.(=) p.(=)