Variant #0000036386 (NC_000014.8:g.76231034G>A, NM_015072.4:c.1627G>A (TTLL5))

Individual ID 00016585
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76231034G>A
DNA change (hg38) g.75764691G>A
Published as -
ISCN -
DB-ID TTLL5_000006 See all 8 reported entries
Variant remarks -
Reference PubMed: Sergouniotis 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/55 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-09 12:55:06 +02:00 (CEST)
Date last edited 2014-05-28 20:56:39 +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 +?/? 19 c.1627G>A r.(?) p.(Glu543Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016537 DNA SEQ - - TTLL5 1 Marianne Vos (LOVD-team)


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