NM_024649.5(BBS1):c.447C>T (p.Pro149=) AND Retinal dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003888719.1
Allele description [Variation Report for NM_024649.5(BBS1):c.447C>T (p.Pro149=)]
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Thioredoxin 1 [Mus musculus]
Thioredoxin 1 [Mus musculus]gi|14789654|gb|AAH10756.1|Protein
-
WHO Guidelines: Use of Cryotherapy for Cervical Intraepithelial Neoplasia
WHO Guidelines: Use of Cryotherapy for Cervical Intraepithelial Neoplasia
-
uts1 urotensin 1 [Danio rerio]
uts1 urotensin 1 [Danio rerio]Gene ID:563732Gene
-
ccl38a.5 chemokine (C-C motif) ligand 38, duplicate 5 [Danio rerio]
ccl38a.5 chemokine (C-C motif) ligand 38, duplicate 5 [Danio rerio]Gene ID:563208Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024