sither
LOVD v.3.0 Build 29 [
Current LOVD status
]
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Variant #0000011066 (NC_000007.14:g.6543210A>G)
Chromosome
7
Allele
Parent #1
Affects function (as reported)
Effect unknown
Affects function (by curator)
Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38)
g.6543210A>G
Reference
-
DB-ID
chr7_000001
See all 2 reported entries
dbSNP ID
-
Variant remarks
-
Average frequency (gnomAD v.2.1.1)
Retrieve
Owner
Guillermo Alberto-Instituto Fleming
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Instituto Nacional del Cancer
View location in UCSC genome browser
View location in Ensembl genome browser
View variant in MobiDetails
Variant on transcripts
No variants on transcripts found!
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center