Genomic variant #0000358164

Individual ID 00155377
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135715991C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID AHI1_000075 See all 3 reported entries
Variant remarks -
Reference Sharon, submitted
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 Dror Sharon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AHI1 NM_001134831.1 +/. 22 c.3032C>G - r.(?) p.(Ser1011*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156242 DNA SEQ - - AHI1 2 Dror Sharon