Genomic variant #0000001093

Individual ID 00000096
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02007 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 LOVD-team, but with Curator vacancy