Variant #0000477157 (NC_000016.9:g.1652381G>C, NM_014714.3:c.359C>G (IFT140))

Individual ID 00233350
Chromosome 16
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.1652381G>C
DNA change (hg38) g.1602380G>C
Published as -
ISCN -
DB-ID IFT140_000113
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/1204 cases with retinitis pigmentosa
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
Date created 2019-05-03 15:11:26 +02:00 (CEST)
Date last edited 2024-12-20 23:59:11 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFT140 NM_014714.3 ?/. - c.359C>G r.(?) p.(Ser120Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000234449 DNA SEQ-NG - - IFT140 1 Yoshito Koyanagi


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