Variant #0000872838 (NC_000014.8:g.76147885_76147887delinsAA, NC_000014.8(NM_015072.4):c.182-3_182-1delinsAA (TTLL5))

Individual ID 00413813
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76147885_76147887delinsAA
DNA change (hg38) -
Published as c.182-3_182-1delinsAA
ISCN -
DB-ID TTLL5_000105
Variant remarks -
Reference PubMed: Dias-2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTLL5 NM_015072.4 +/. 3i c.182-3_182-1delinsAA r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415093 DNA SEQ-NG;SEQ - - TTLL5 1 LOVD


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