Variant #0001045322 (NC_000015.9:g.101791469_101791470del, NM_014918.4:c.192_193del (CHSY1))

Individual ID 00465859
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.101791469_101791470del
DNA change (hg38) g.101251264_101251265del
Published as 192_193delTG
ISCN -
DB-ID CHSY1_000032
Variant remarks -
Reference PubMed: Ranza 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-06-07 14:19:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHSY1 NM_014918.4 +/. - c.192_193del r.(?) p.(Gln69AlafsTer54)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467510 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen


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