Variant #0000011427 (NC_000001.10:g.90459982G>A, GEMIN8P4(NR_002830.1):n.544C>T)

Individual ID 00000209
Chromosome 1
Allele Both (homozygous)
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.90459982G>A
DNA change (hg38) g.89994423G>A
Published as -
ISCN -
DB-ID GEMIN8P4_000007 See all 2 reported entries
Variant remarks Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GEMIN8P4 NR_002830.1 ?/. - n.544C>T r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun