Variant #0000507736 (NC_000001.10:g.46655645C>T, NM_001243766.1:c.1666G>A (POMGNT1))
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.46655645C>T |
DNA change (hg38) |
g.46189973C>T |
Published as |
POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) |
ISCN |
- |
DB-ID |
POMGNT1_000035 See all 10 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) |
0.00991 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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