Variant #0000667612 (NC_000023.10:g.114141820_114141823del, HTR2C(NM_001256760.1):c.1219_1222del)

Individual ID 00303074
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.114141820_114141823del
DNA change (hg38) g.114907257_114907260del
Published as 1219_1222delTCTG
ISCN -
DB-ID HTR2C_000013
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTR2C NM_001256760.1 +?/. - c.1219_1222del - r.(?) p.(Ser407Glyfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304199 DNA SEQ-NG - WES HTR2C 1 Johan den Dunnen