Genomic variant #0000001102

Individual ID 00000058
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.24533938T>C
DNA change (hg38) g.24533710T>C
Published as -
ISCN -
DB-ID ALDH5A1_000115
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ALDH5A1 NM_001080.3 ?/. - c.1606T>C - r.(?) p.(*536Glnext*6)
ALDH5A1 NM_170740.1 ?/. 11 c.1645T>C - r.(?) p.(*549Glnext*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000058 DNA SEQ-NG - - ALDH5A1, ATP7B, CFTR, CYP21A2, GBA, HEXB, IGHMBP2, MEFV, MYO5A, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, SLC26A2, SMPD1 18 LOVD-team, but with Curator vacancy