Variant #0000096457 (NC_000023.10:g.113965735G>C, HTR2C(NM_001256760.1):c.68G>C)

Individual ID 00064683
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.113965735G>C
DNA change (hg38) g.114731326=
Published as Cys23Ser
ISCN -
DB-ID HTR2C_000001 See all 3 reported entries
Variant remarks reference haplotype HTR2C 1-1-2
Reference Reference haplotype
ClinVar ID -
dbSNP ID rs6318
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.14293 View details
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 ?/. 5 c.68G>C HTR2C 1-1-2 r.(?) p.(Cys23Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064823 DNA SEQ - - HTR2C 2 Johan den Dunnen