Variant #0000790588 (NC_000003.11:g.100972560C>A, IMPG2(NM_016247.3):c.1219G>T)

Individual ID 00376780
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.100972560C>A
DNA change (hg38) g.101253716C>A
Published as -
ISCN -
DB-ID IMPG2_000049 See all 2 reported entries
Variant remarks -
Reference PubMed: Wang 2014
ClinVar ID -
dbSNP ID rs199986912
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 ?/. - c.1219G>T r.(?) p.(Ala407Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377986 DNA SEQ-NG - 66-gene panel - 3 LOVD