Variant #0000036385 (NC_000014.8:g.76231034G>T, NM_015072.4:c.1627G>T (TTLL5))

Individual ID 00016584
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76231034G>T
DNA change (hg38) g.75764691G>T
Published as 1627G>T
ISCN -
DB-ID TTLL5_000005
Variant remarks -
Reference PubMed: Sergouniotis 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 2/63 patients
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-09 12:49:05 +02:00 (CEST)
Date last edited 2014-05-28 20:54:05 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTLL5 NM_015072.4 +/? 19 c.1627G>T r.(?) p.(Glu543*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016536 DNA SEQ - - FHL2, TTLL5, ZKSCAN4 3 Marianne Vos (LOVD-team)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.