Variant #0000001347 (NC_000015.9:g.40699841G>C, IVD(NM_002225.3):c.158G>C)

Individual ID 00000127
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40699841G>C
DNA change (hg38) g.40407640G>C
Published as c.149G>C;p.Arg21Pro
ISCN -
DB-ID IVD_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Vockley et al (2000)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Ivo F.A.C. Fokkema
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2012-06-16 09:20:56 +02:00 (CEST)
Date last edited 2012-11-27 22:31:56 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IVD NM_002225.3 +/+? 2 c.158G>C r.154_243del p.Leu52_Arg81del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000119 DNA;RNA RT-PCR;SEQ - - IVD, PEX10, PEX12, USH2A 2 Ivo F.A.C. Fokkema