Variant #0000655943 (NC_000007.13:g.99704138G>T, NC_000007.13(NM_004722.3):c.1137+1G>T (AP4M1))
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.99704138G>T |
DNA change (hg38) |
g.100106515G>T |
Published as |
AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T |
ISCN |
- |
DB-ID |
AP4M1_000001 See all 6 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) |
2.0E-5 View details |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2020-03-23 16:13:27 +01:00 (CET) |
Date last edited |
2022-05-09 15:24:52 +02:00 (CEST) |

Variant on transcripts
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