Variant #0000871713 (NC_000008.10:g.55533619_55533631delinsAAA, RP1(NM_006269.1):c.93_105delinsAAA)

Individual ID 00412853
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.55533619_55533631delinsAAA
DNA change (hg38) g.54621059_54621071delinsAAA
Published as RP1 c.93_105del13ins3, p.His31GlnfsX47
ISCN -
DB-ID RP1_000131 See all 7 reported entries
Variant remarks homozygous
Reference Lafont 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-06 10:21:08 +02:00 (CEST)
Date last edited 2022-07-06 10:21:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1 NM_006269.1 +?/. 2 c.93_105delinsAAA r.(?) p.(His31Glnfs*47)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000414124 DNA SEQ blood - RP1 1 LOVD