Variant #0000717493 (NC_000001.10:g.43228001G>T, NM_022356.3:c.611C>A (P3H1))
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43228001G>T |
DNA change (hg38) |
- |
Published as |
LEPRE1(NM_001146289.1):c.611C>A (p.(Pro204His)), P3H1(NM_022356.3):c.611C>A (p.P204H) |
ISCN |
- |
DB-ID |
P3H1_000103 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00175 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2021-02-08 18:36:18 +01:00 (CET) |
Date last edited |
2021-05-16 12:02:41 +02:00 (CEST) |

Variant on transcripts
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