Variant #0000760911 (NC_000023.10:g.30326352C>T, NR0B1(NM_000475.4):c.1129G>A)

Individual ID 00359578
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.30326352C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID NR0B1_000039 See all 2 reported entries
Variant remarks ACMG: Class 4 (PS4_MOD, PM1, PS3_SUP, PM2_SUP, PP3)
Reference PMID: 11443184, PMID: 28741070, PMID: 23018754
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 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     
NR0B1 NM_000475.4 +?/. - c.1129G>A r.(?) p.(Glu377Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360806 DNA SEQ-NG-I - - NR0B1 1 Andreas Laner