Variant #0000981013 (NC_000014.8:g.76173963del, NC_000014.8(NM_015072.4):c.656-3del (TTLL5))

Chromosome 14
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76173963del
DNA change (hg38) -
Published as TTLL5(NM_015072.5):c.656-3del, TTLL5(NM_015072.5):c.656-3delT
ISCN -
DB-ID TTLL5_000015 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +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 -?/. - c.656-3del r.spl? p.?


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