Variant #0000803965 (NC_000009.11:g.138590248G>A, KCNT1(NM_020822.2):c.-3857G>A)
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.138590248G>A |
DNA change (hg38) |
- |
Published as |
SOHLH1(NM_001012415.2):c.272C>T (p.A91V) |
ISCN |
- |
DB-ID |
KCNT1_000223 |
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 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |

Variant on transcripts
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