Variant #0000608463 (NC_000003.11:g.195965680C>T, NM_005017.2:c.983G>A (PCYT1A))
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.195965680C>T |
DNA change (hg38) |
g.196238809C>T |
Published as |
PCYT1A(NM_001312673.2):c.983G>A (p.R328H) |
ISCN |
- |
DB-ID |
PCYT1A_000028 |
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_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-12-04 14:54:23 +01:00 (CET) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
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