Variant #0000355084 (NC_000017.10:g.18061958T>A, NC_000017.10(NM_016239.3):c.9083+6T>A (MYO15A))
Individual ID |
00154503 |
Chromosome |
17 |
Allele |
Both (homozygous) |
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.18061958T>A |
DNA change (hg38) |
g.18158644T>A |
Published as |
- |
ISCN |
- |
DB-ID |
MYO15A_000240 |
Variant remarks |
not in 220 control chromosomes |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nada Danial-Farran |
Database submission license |
No license selected |
Created by |
Nada Danial-Farran |
Date created |
2018-03-02 11:42:45 +01:00 (CET) |
Date last edited |
2020-07-13 10:49:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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