Variant #0000668944 (NC_000008.10:g.61654746C>A, NM_017780.3:c.755C>A (CHD7))
Individual ID |
00303641 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.61654746C>A |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
CHD7_000413 |
Variant remarks |
- |
Reference |
PubMed: Biard 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Valerie Benoit |
Database submission license |
No license selected |
Created by |
Valerie Benoit |
Date created |
2020-06-24 11:14:56 +02:00 (CEST) |
Date last edited |
2022-11-24 10:00:10 +01:00 (CET) |

Variant on transcripts
Screenings
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