NM_194248.3(OTOF):c.1539_1554del (p.His513fs) AND Auditory neuropathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003484468.1
Allele description [Variation Report for NM_194248.3(OTOF):c.1539_1554del (p.His513fs)]
NM_194248.3(OTOF):c.1539_1554del (p.His513fs)
Condition(s)
-
receptor expression-enhancing protein 4 isoform X1 [Mus musculus]
receptor expression-enhancing protein 4 isoform X1 [Mus musculus]gi|568988883|ref|XP_006519661.1|Protein
-
Homologene neighbors for GEO Profiles (Select 115362859) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 115345230) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 105705380) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 65004454) (0)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 4, 2024