NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001073281.3
Allele description [Variation Report for NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)]
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
UDP-Glucose Glycoprotein glucosylTransferase [Caenorhabditis elegans]
UDP-Glucose Glycoprotein glucosylTransferase [Caenorhabditis elegans]gi|373219939|emb|CCD71302.1|Protein
-
hypothetical protein THAOC_33304, partial [Thalassiosira oceanica]
hypothetical protein THAOC_33304, partial [Thalassiosira oceanica]gi|397571755|gb|EJK47943.1||gnl|WGS |THAOC_33304pProtein
-
34060[uid] (0)
MeSH
-
DC194641 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st111a...
DC194641 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st111a02 5', mRNA sequencegi|119054375|gnl|dbEST|43324892|dbj 4641.1|Nucleotide
-
AGENCOURT_15214408 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4970996 5', mR...
AGENCOURT_15214408 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4970996 5', mRNA sequencegi|33649310|gnl|dbEST|19542726|gb|C 31.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024