Variant #0000434701 (NC_000019.9:g.49685865G>A, NM_017636.3:c.1294G>A (TRPM4))
Individual ID |
00204306 |
Chromosome |
19 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49685865G>A |
DNA change (hg38) |
g.49182608G>A |
Published as |
- |
ISCN |
- |
DB-ID |
TRPM4_000003 See all 8 reported entries |
Variant remarks |
mapped by linkage |
Reference |
PubMed: Liu et al 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00048 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Gerard C.P. Schaafsma |
Date created |
2011-05-29 10:01:37 +02:00 (CEST) |
Date last edited |
2011-05-29 21:27:23 +02:00 (CEST) |

Variant on transcripts
Screenings
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