Variant #0000004383 (NC_000019.9:g.13419266C>T, CACNA1A(NM_000068.3):c.1748G>A)
Individual ID |
00004383 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.13419266C>T |
Reference |
Battistini S1, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.(1999) |
DB-ID |
CACNA1A_000002 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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