Variant #0000824797 (NC_000004.11:g.187126358A>C, NM_207352.3:c.992A>C (CYP4V2))
Individual ID |
00392653 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.187126358A>C |
DNA change (hg38) |
g.186205204A>C |
Published as |
CYP4V2 c.A992C, p.H331P |
ISCN |
- |
DB-ID |
CYP4V2_000018 See all 81 reported entries |
Variant remarks |
marked as causative, heterozygous |
Reference |
PubMed: Ma 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
8.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-11-23 15:06:01 +01:00 (CET) |
Date last edited |
2025-03-10 00:20:34 +01:00 (CET) |

Variant on transcripts
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