Variant #0000673965 (NC_000010.10:g.105805551dup, COL17A1(NM_000494.3):c.2363dup)
Individual ID |
00306211 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.105805551dup |
DNA change (hg38) |
- |
Published as |
2363dupG |
ISCN |
- |
DB-ID |
COL17A1_000055 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Sha Hong |

Variant on transcripts
Screenings
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