Variant #0000813921 (NC_000014.8:g.89307456G>A, NM_144596.2:c.405G>A (TTC8))

Individual ID 00385184
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.89307456G>A
DNA change (hg38) -
Published as c.405G>A
ISCN -
DB-ID TTC8_000108
Variant remarks -
Reference PubMed: Chen-2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 2021-10-09 03:44:00 +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     
TTC8 NM_144596.2 -?/. 5 c.405G>A r.(?) p.(Met135Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386413 DNA SEQ blood - ARL6 2 LOVD


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