Genomic variant #0000001101

Individual ID 00000094
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135778794T>C
DNA change (hg38) g.135457656T>C
Published as -
ISCN -
DB-ID AHI1_000004 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00075 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 ?/. 9 c.989A>G - r.(?) p.(Asp330Gly)
AHI1 NM_017651.4 ./. - c.989A>G - r.(?) p.(Asp330Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000094 DNA SEQ-NG - - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 14 LOVD-team, but with Curator vacancy