NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) AND Retinitis pigmentosa
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505138.1
Allele description [Variation Report for NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)]
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
Condition(s)
-
LOC109478004 [Branchiostoma belcheri]
LOC109478004 [Branchiostoma belcheri]Gene ID:109478004Gene
-
LOC109473802 [Branchiostoma belcheri]
LOC109473802 [Branchiostoma belcheri]Gene ID:109473802Gene
-
CEBPG CCAAT enhancer binding protein gamma [Homo sapiens]
CEBPG CCAAT enhancer binding protein gamma [Homo sapiens]Gene ID:1054Gene
-
Gene Links for GEO Profiles (Select 132187232) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 123326437) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024