Genomic variant #0000001100

Individual ID 00000066
Chromosome 6
Allele Unknown
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.135732497C>A
DNA change (hg38) g.135411359C>A
Published as -
ISCN -
DB-ID AHI1_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AHI1 NM_001134831.1 +/. 21 c.2950G>T r.(?) p.(Glu984*)
AHI1 NM_017651.4 ./. - c.2950G>T r.(?) p.(Glu984*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000066 DNA SEQ-NG - - AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN 14 Global Variome, with Curator vacancy