Full data view for gene OTOF


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_194248.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1117 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1765 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1780 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1801 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2401 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3745 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4496 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4856 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE7573 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE7942 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A0826 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2421 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2515 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2575 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3152 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3247 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3249 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3532 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4417 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4618 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4732 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4733 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4777 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4886 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4943 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE5486 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE5604 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6680 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6695 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A1387 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2693 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2776 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A3436 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6002 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A1053 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A0787 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A1385 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A1652 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
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