Variant #0000648828 (NC_000014.8:g.21769193C>A, NM_020366.3:c.287C>A (RPGRIP1))

Individual ID 00290971
Chromosome 14
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.21769193C>A
DNA change (hg38) g.21301034C>A
Published as -
ISCN -
DB-ID RPGRIP1_000019 See all 3 reported entries
Variant remarks 209 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs1040904
Origin Germline
Segregation -
Frequency 209/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.07048 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2020-10-30 12:38:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 -?/. - c.287C>A r.(?) p.(Pro96Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292139 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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