Variant #0000001086 (NC_000011.9:g.5246716A>G)
Individual ID |
00000485, 00001132, 00001809 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5246716A>G |
Reference |
(OMIM 0386);dbSNP;Jankovic L et al.; |
DB-ID |
chr11_000665 |
Frequency |
- |
Variant remarks |
Poly A (A->G); AATAAA->AATAGA beta+ |
ClassClinical |
Pathogenic |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |
Variant on transcripts
Screenings
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