Variant #0000273515 (NC_000008.10:g.61654912_61654913del, NM_017780.3:c.921_922del (CHD7))
Chromosome |
8 |
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.61654912_61654913del |
DNA change (hg38) |
g.60742353_60742354del |
Published as |
CHD7(NM_017780.2):c.921_922delAG (p.G308Afs*9) |
ISCN |
- |
DB-ID |
CHD7_000015 |
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) |
Retrieve |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2020-06-23 20:09:14 +02:00 (CEST) |

Variant on transcripts
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