Variant #0000698783 (NC_000003.11:g.183752964A>C, HTR3D(NM_182537.2):c.-78A>C)
Individual ID |
00315452 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.183752964A>C |
DNA change (hg38) |
g.184035176A>C |
Published as |
- |
ISCN |
- |
DB-ID |
HTR3D_000001 See all 3 reported entries |
Variant remarks |
- |
Reference |
Niesler-Lab Kapeller PhD Thesis 2009 |
ClinVar ID |
- |
dbSNP ID |
rs77099580 |
Origin |
Germline |
Segregation |
- |
Frequency |
0.033 (0.012-0.070) |
Re-site |
+HpaII, MspI, NciI; -BstNI, PspGI |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.03005 View details |
Owner |
Louise Amlie-Wolf |
Database submission license |
No license selected |
Created by |
Louise Amlie-Wolf |
Date created |
2012-06-25 11:40:06 +02:00 (CEST) |
Date last edited |
2020-10-26 13:11:38 +01:00 (CET) |

Variant on transcripts
Screenings
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