Variant #0000000037 (NC_000015.9:g.89760351C>G, RLBP1(NM_000326.4):c.346G>C)

Individual ID 00000052
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89760351C>G
Reference -
DB-ID RLBP1_000001 See all 2 reported entries
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
RLBP1 NM_000326.4 +/+ - c.346G>C r.(?) p.(Gly116Arg) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000052 DNA SEQ-NG RLBP1 1 variome.ir