Variant #0000096449 (NC_000023.10:g.113818520=, HTR2C(NM_001256760.1):c.-850C=)

Individual ID 00064681
Chromosome X
Allele Parent #1
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.113818520=
DNA change (hg38) g.114584047=
Published as C-759T (NM_000868.3)
ISCN -
DB-ID HTR2C_000000 See all 3 reported entries
Variant remarks allele not associated with antipsychotic-induced weight gain
Reference PubMed: Sicard 2010, Journal: Sicard 2010
ClinVar ID -
dbSNP ID rs3813929
Origin Germline
Segregation -
Frequency 8/27cases
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTR2C NM_001256760.1 +?/. _1 c.-850C= HTR2C 2-2-2 r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064821 DNA SEQ - - HTR2C 3 Johan den Dunnen