Variant #0001034726 (NC_000004.11:g.8873006C>A, NM_018942.2:c.335G>T (HMX1))
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.8873006C>A |
DNA change (hg38) |
- |
Published as |
HMX1(NM_018942.2):c.335G>T (p.G112V), HMX1(NM_018942.3):c.335G>T (p.(Gly112Val)) |
ISCN |
- |
DB-ID |
HMX1_000022 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) |
0.0003 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2025-05-05 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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