Variant #0000001093 (NC_000006.11:g.135751024G>A, NM_001134831.1:c.2488C>T (AHI1))

Individual ID 00000096
Chromosome 6
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.135751024G>A
DNA change (hg38) g.135429886G>A
Published as -
ISCN -
DB-ID AHI1_000006 See all 29 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0203 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-04-06 16:20:25 +02:00 (CEST)
Date last edited 2024-05-02 15:59:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AHI1 NM_001134831.1 ?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
AHI1 NM_017651.4 ./. - c.2488C>T r.(?) p.(Arg830Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000096 DNA SEQ-NG - - AHI1, ATP7B, BTD, COQ2, ETFB, GLB1, HEXB, NHLRC1, SERPINA1, USH1C 11 Global Variome, with Curator vacancy


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.