Variant #0000822954 (NC_000003.11:g.57232428G>C, HESX1(NM_003865.2):c.450C>G)

Individual ID 00391369
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.57232428G>C
DNA change (hg38) g.57198400G>C
Published as HESX1 c.450C>G p.(Asp150Glu)
ISCN -
DB-ID HESX1_000014
Variant remarks heterozygous
Reference PubMed: Méjécase 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HESX1 NM_003865.2 +?/. - c.450C>G r.(?) p.(Asp150Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392611 DNA SEQ-NG - retrospective case note review, targeted gene panel testing HESX1 1 LOVD