Variant #0000827002 (NC_000014.8:g.76173400C>T, NM_015072.4:c.625C>T (TTLL5))

Individual ID 00394364
Chromosome 14
Allele Unknown
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.76173400C>T
DNA change (hg38) g.75707057C>T
Published as TTLL5 c.625C>T, p.Arg209Cys
ISCN -
DB-ID TTLL5_000099 See all 2 reported entries
Variant remarks heterozygous, causality unknown
Reference PubMed: Thorsteinsson 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-12-01 10:17:04 +01:00 (CET)
Date last edited 2025-03-14 23:15:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTLL5 NM_015072.4 ?/. - c.625C>T r.(?) p.(Arg209Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000395611 DNA SEQ-NG - retrospective analysis TTLL5 3 LOVD


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