NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 25, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000155260.5
Allele description [Variation Report for NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)]
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
CSRNP3 cysteine and serine rich nuclear protein 3 [Homo sapiens]
CSRNP3 cysteine and serine rich nuclear protein 3 [Homo sapiens]Gene ID:80034Gene
-
Gene Links for GEO Profiles (Select 34574904) (1)
Gene
-
TSBP1 testis expressed basic protein 1 [Homo sapiens]
TSBP1 testis expressed basic protein 1 [Homo sapiens]Gene ID:10665Gene
-
Gene Links for GEO Profiles (Select 77634565) (1)
Gene
-
Related Structures (List) for Protein (Select 143811467) (5)
Structure
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024