Variant #0000001785 (NC_000009.12:g.74649312T>A, RORB(NM_006914.3):c.637+6497T>A)

Individual ID 00000382
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.74649312T>A
Published as -
Reference Batoul Sadat Haerian et al. (2015), dbSNP
DB-ID RORB_000004 See all 9 reported entries
dbSNP ID rs3903529
Frequency 1/143
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
RORB NM_006914.3 +/. - c.637+6497T>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000396 DNA SEQ;SBE RORB 8 Nuur Athirah Binti Mohd Daud