Variant #0000256063 (NC_000023.10:g.114141586A>G, HTR2C(NM_001256760.1):c.985A>G)

Chromosome X
Allele Unknown
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.114141586A>G
DNA change (hg38) g.114907023A>G
Published as HTR2C(NM_001256760.2):c.985A>G (p.I329V)
ISCN -
DB-ID HTR2C_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTR2C NM_001256760.1 ?/. - c.985A>G - r.(?) p.(Ile329Val)