Variant #0000327050 (NC_000002.11:g.69597209A>G, NM_001244710.1:c.147T>C (GFPT1))
Chromosome |
2 |
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.69597209A>G |
DNA change (hg38) |
g.69370077A>G |
Published as |
GFPT1(NM_001244710.1):c.147T>C (p.(Asp49=)) |
ISCN |
- |
DB-ID |
GFPT1_000030 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) |
0.01628 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2022-11-01 13:01:21 +01:00 (CET) |

Variant on transcripts
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