Variant #0000001763 (NC_000015.10:g.60987054T>C, NC_000015.10(NM_134261.2):c.166+241999A>G (RORA))

Individual ID 00000380
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.60987054T>C
Published as -
Reference Batoul Sadat Haerian et al. (2015), dbSNP
DB-ID RORA_000002 See all 8 reported entries
dbSNP ID rs16943429
Frequency 162/228
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-26 12:11:04 +08:00 (CST)
Date last edited 2021-09-02 13:20:16 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
RORA NM_134261.2 +/. - c.166+241999A>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000394 DNA SEQ;SBE RORA 10 Nuur Athirah Binti Mohd Daud