Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
---|---|---|---|---|
USH1G | NM_001282489.2 | NP_001269418.1 | ||
NM_173477.4 | NP_775748.2 | |||
XM_011524296.2 | XP_011522598.1 | |||
AK091243.1 | BAC03619.1 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833540 | Chr17:74838971 - 75019365 on Build GRCh38 | Loss | HID1 FDXR TMEM104 GRIN2C USH1G HID1-AS1 CDR2L MRPL58 OTOP2 FADS6 OTOP3 |
nsv518292 | Chr17:74810882 - 74982818 on Build GRCh38 | Loss | HID1 FDXR TMEM104 GRIN2C USH1G HID1-AS1 OTOP2 FADS6 OTOP3 |
nsv952367 | Chr17:74751962 - 74961105 on Build GRCh38 | Deletion | HID1 FDXR TMEM104 GRIN2C USH1G SLC9A3R1 OTOP2 FADS6 NAT9 OTOP3 |
nsv576026 | Chr17:74889500 - 74982818 on Build GRCh38 | Gain | HID1 USH1G HID1-AS1 OTOP2 FADS6 OTOP3 |