Variant #0000871838 (NC_000008.10:g.55538467dup, RP1(NM_006269.1):c.2025dup)

Individual ID 00412960
Chromosome 8
Allele Parent #1
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.55538467dup
DNA change (hg38) g.54625907dup
Published as RP1 c.2025dupA. [p.Ser676IIefs*22]
ISCN -
DB-ID RP1_000330 See all 4 reported entries
Variant remarks heterozygous
Reference PubMed: Starosta 2019
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1 NM_006269.1 +?/. 4 c.2025dup r.(?) p.(Ser676IlefsTer22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000414231 DNA ? - clinical paper, techniques unknown RP1 2 LOVD