Variant #0000036383 (NC_000014.8:g.76156564del, NM_015072.4:c.401del (TTLL5))

Individual ID 00016583
Chromosome 14
Allele Parent #1
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.76156564del
DNA change (hg38) g.75690221del
Published as 401delT
ISCN -
DB-ID TTLL5_000003
Variant remarks -
Reference PubMed: Sergouniotis 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/28 patients
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-09 12:14:37 +02:00 (CEST)
Date last edited 2020-07-05 16:09:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTLL5 NM_015072.4 +/? 6 c.401del r.(?) p.(Leu134Argfs*45)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016535 DNA SEQ - - TTLL5 2 Marianne Vos (LOVD-team)


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