Variant #0000786726 (NC_000006.11:g.135778795delinsTATTATTTA, NM_001134831.1:c.988delinsTAAATAATA (AHI1))

Individual ID 00374181
Chromosome 6
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.135778795delinsTATTATTTA
DNA change (hg38) g.135457657delinsTATTATTTA
Published as -
ISCN -
DB-ID AHI1_000175
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID rs777241163
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-24 20:06:48 +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     
AHI1 NM_001134831.1 +/. 8 c.988delinsTAAATAATA r.(?) p.(Asp330Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375375 DNA SEQ-NG - TruSight One panel AHI1 1 Johan den Dunnen


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