Variant #0000278030 (NC_000003.11:g.101039185G>T, IMPG2(NM_016247.3):c.32C>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101039185G>T
DNA change (hg38) g.101320341G>T
Published as IMPG2(NM_016247.3):c.32C>A (p.S11Y)
ISCN -
DB-ID IMPG2_000032
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
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.32C>A r.(?) p.(Ser11Tyr)
SENP7 NM_020654.3 ?/. - c.*5602C>A r.(=) p.(=)