Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005422.2:c.2941+1G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
603629.1.1 | Lebanon | Severe sensorineural hearing impairment | Female | Yes | No | |
603629.1.2 | Lebanon | Severe sensorineural hearing impairment | Male | Yes | No | Brother of 603629.1.1 |
603629.1.3 | Lebanon | Severe sensorineural hearing impairment | Female | Yes | No | Sister of 603629.1.1 |
603629.1.4 | Lebanon | Severe sensorineural hearing impairment | Female | Yes | No | First cousin of 603629.1.1 |
603629.1.5 | Lebanon | Severe sensorineural hearing impairment | Male | Yes | No | Brother of 603629.1.4 |
603629.1.6 | Lebanon | Severe sensorineural hearing impairment | Male | Yes | No | Brother of 603629.1.4 |
603629.1.7 | Lebanon | Severe sensorineural hearing impairment | Female | Yes | No | Sister of 603629.1.4 |
603629.1.8 | Lebanon | Severe sensorineural hearing impairment | Male | Yes | Yes | Nephew of 603629.1.1 |
603629.1.10 | Lebanon | Female | Mother of 603629.1.1 | |||
603629.1.11 | Lebanon | Female | Mother of 603629.1.4 | |||
603629.1.12 | Lebanon | Female | Mother of 603629.1.8 and 603629.1.9 | |||
603629.1.13 | Lebanon | Male | Father of 603629.1.8 and 603629.1.9 |