Variant #0000824696 (NC_000006.11:g.135784291dup, NM_001134831.1:c.910dup (AHI1))

Individual ID 00392627
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.135784291dup
DNA change (hg38) g.135463153dup
Published as AHI1 c.910dupA, p.T304fs
ISCN -
DB-ID AHI1_000171 See all 15 reported entries
Variant remarks marked as causative, heterozygous
Reference PubMed: Ma 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
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 Anna Tracewska
Date created 2021-11-23 15:06:01 +01:00 (CET)
Date last edited 2021-11-23 15:06:39 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AHI1 NM_001134831.1 ?/. - c.910dup r.(?) p.(Thr304AsnfsTer6)
AHI1 NM_017651.4 ?/. - c.903dup r.(?) p.(Thr304Asnfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393874 DNA SEQ-NG-I;SEQ - whole exome sequencing AHI1 2 LOVD


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