Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000260.4:c.223G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600060.G.2 | United Arab Emirates | Congenital sensorineural hearing impairment | Unknown | Two patients with deafness exhibiting a large deletion in MYO7A encompassing exon 40 partially and all of exon 41 |