Variant #0000660673 (NC_000005.9:g.92920807_92920825del, NR2F1(NM_005654.4):c.78_96del)

Individual ID 00296855
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.92920807_92920825del
DNA change (hg38) g.93585101_93585119del
Published as -
ISCN -
DB-ID NR2F1_000033
Variant remarks ACMG grading: PVS1,PM2
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR2F1 NM_005654.4 +?/. - c.78_96del r.(?) p.(Gln28Alafs*85)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297965 DNA SEQ-NG-S - - - 1 Andreas Laner