Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016239.3:c.3791C>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600316.3 | United Arab Emirates | Bilateral sensorineural hearing impairment | Male | No | Yes | |
600316.5 | United Arab Emirates | Sensorineural hearing impairment | Male | Yes | Patient from 'family 1' in the publication | |
600316.6 | United Arab Emirates | Hearing impairment | Unknown | |||
600316.7 | United Arab Emirates | Hearing impairment | Unknown |