Genomic variant #0000527258

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135715991G>C
DNA change (hg38) -
Published as AHI1(NM_001134831.1):c.3032C>G (p.S1011*)
ISCN -
DB-ID AHI1_000075 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AHI1 NM_001134831.1 +/. - c.3032C>G pathogenic r.(?) p.(Ser1011*)
AHI1 NM_017651.4 +/. - c.3032C>G pathogenic r.(?) p.(Ser1011*)