Variant #0000434700 (NC_000019.9:g.49674854A>G, NM_017636.3:c.878A>G (TRPM4))
Individual ID |
00204313 |
Chromosome |
19 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49674854A>G |
DNA change (hg38) |
g.49171597A>G |
Published as |
- |
ISCN |
- |
DB-ID |
TRPM4_000010 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00019 View details |
Owner |
Birgit Stallmeyer |
Database submission license |
No license selected |
Created by |
Birgit Stallmeyer |
Date created |
2011-08-19 22:35:47 +02:00 (CEST) |
Date last edited |
2011-08-22 08:33:43 +02:00 (CEST) |

Variant on transcripts
Screenings
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