Variant #0000367015 (NC_000006.11:g.76599868dup, NM_004999.3:c.2753dup (MYO6))
Individual ID |
00163103 |
Chromosome |
6 |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76599868dup |
DNA change (hg38) |
g.75890151dup |
Published as |
2752insA and as p.Q918fs*941 |
ISCN |
- |
DB-ID |
MYO6_000014 |
Variant remarks |
Heterozygous |
Reference |
PubMed: Kwon et al., 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
0/200 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
David Baux |
Date created |
2015-01-21 16:29:02 +01:00 (CET) |
Date last edited |
2015-02-04 11:41:06 +01:00 (CET) |

Variant on transcripts
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