Variant #0000085521 (NC_000017.10:g.39727758G>A, NM_000226.3:c.487C>T (KRT9))
Individual ID |
00055553 |
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.39727758G>A |
DNA change (hg38) |
g.41571506G>A |
Published as |
- |
ISCN |
- |
DB-ID |
KRT9_000003 See all 24 reported entries |
Variant remarks |
- |
Reference |
PubMed: Mayuzumi 1999 |
ClinVar ID |
- |
dbSNP ID |
rs59616921 |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Michel van Geel |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Michel van Geel |
Date created |
2011-10-23 17:18:19 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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