Variant #0000652249 (NC_000007.13:g.21621631G>A, NM_001277115.1:c.1702G>A (DNAH11))
Individual ID |
00294392 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.21621631G>A |
DNA change (hg38) |
g.21582013G>A |
Published as |
- |
ISCN |
- |
DB-ID |
CDCA7L_000018 See all 4 reported entries |
Variant remarks |
230 heterozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs72655988 |
Origin |
Germline |
Segregation |
- |
Frequency |
230/2795 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.03962 View details |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-03-11 19:46:11 +01:00 (CET) |
Date last edited |
2021-08-20 03:36:31 +02:00 (CEST) |

Variant on transcripts
Screenings
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