Variant #0000846626 (NC_000014.8:g.21762845T>A, NM_020366.3:c.95A>T (RPGRIP1))

Individual ID 00408201
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21762845T>A
DNA change (hg38) g.21294686T>A
Published as RPGRIP1 c.95T>A, M32L
ISCN -
DB-ID RPGRIP1_000017 See all 8 reported entries
Variant remarks error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous
Reference PubMed: Fernandez-Martinez 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00126 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-17 20:11:19 +02:00 (CEST)
Date last edited 2022-04-17 20:12:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPGRIP1 NM_020366.3 ?/. - c.95A>T r.(?) p.(Met32Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000409456 DNA SEQ - - RPGRIP1 1 LOVD


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