NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 30, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195476.4
Allele description [Variation Report for NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)]
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
germinal center-associated signaling and motility protein isoform X4 [Homo sapie...
germinal center-associated signaling and motility protein isoform X4 [Homo sapiens]gi|767926239|ref|XP_011510932.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024