Variant #0000096456 (NC_000023.10:g.113818520C>T, HTR2C(NM_001256760.1):c.-850C>T)

Individual ID 00064680
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.113818520C>T
DNA change (hg38) g.114584047C>T
Published as -
ISCN -
DB-ID HTR2C_000008 See all 4 reported entries
Variant remarks -
Reference PubMed: Sicard 2010, Journal: Sicard 2010
ClinVar ID -
dbSNP ID rs3813929
Origin Germline
Segregation -
Frequency 10/19 cases
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>T HTR2C 1-2-1 r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064820 DNA SEQ - - HTR2C 2 Johan den Dunnen