Variant #0000537083 (NC_000009.11:g.138606584_138606585dup, KCNT1(NM_020822.2):c.254+18_254+19dup)
Chromosome |
9 |
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.138606584_138606585dup |
DNA change (hg38) |
g.135714738_135714739dup |
Published as |
KCNT1(NM_020822.2):c.254+19_254+20dupGG |
ISCN |
- |
DB-ID |
KCNT1_000162 |
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) |
Variant not found in online data sets |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |

Variant on transcripts
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