Variant #0000289628 (NC_000003.11:g.101039160C>G, IMPG2(NM_016247.3):c.57G>C)

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.101039160C>G
DNA change (hg38) g.101320316C>G
Published as IMPG2(NM_016247.3):c.57G>C (p.L19=)
ISCN -
DB-ID IMPG2_000031
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) 0.00042 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 -?/. - c.57G>C r.(?) p.(Leu19=)
SENP7 NM_020654.3 -?/. - c.*5627G>C r.(=) p.(=)