Variant #0000788431 (NC_000008.10:g.10464767G>T, RP1L1(NM_178857.5):c.6841C>A)

Individual ID 00375422
Chromosome 8
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.10464767G>T
DNA change (hg38) g.10607257G>T
Published as C6841A
ISCN -
DB-ID RP1L1_000466
Variant remarks -
Reference PubMed: Katagiri 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RP1L1 NM_178857.5 ?/. 4 c.6841C>A r.(?) p.(Pro2281Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376619 DNA SEQ-NG - WES - 7 LOVD