Variant #0000701821 (NC_000014.8:g.76165596G>A, NM_015072.4:c.568G>A (TTLL5))

Individual ID 00317979
Chromosome 14
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76165596G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID TTLL5_000077
Variant remarks -
Reference PubMed: Hamada 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-05 12:54:37 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTLL5 NM_015072.4 ?/. - c.568G>A r.(?) p.(Val190Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319161 DNA SEQ;SEQ-NG - trio WES PHACTR1 10 Johan den Dunnen


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