Variant #0000096449 (NC_000023.10:g.113818520=, NM_001256760.1:c.-850C= (HTR2C))
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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-05-09 18:04:48 +02:00 (CEST) |
Date last edited |
2020-07-21 08:59:14 +02:00 (CEST) |

Variant on transcripts
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