NM_000329.3(RPE65):c.1451-1G>A AND RPE65-related recessive retinopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527431.1
Allele description [Variation Report for NM_000329.3(RPE65):c.1451-1G>A]
NM_000329.3(RPE65):c.1451-1G>A
Condition(s)
- Name:
- RPE65-related recessive retinopathy
- Synonyms:
- Recessive RPE65 retinopathy
- Identifiers:
- MONDO: MONDO:0100368; MedGen: CN305526
-
Rattus norvegicus SWI/SNF related, matrix associated, actin dependent regulator ...
Rattus norvegicus SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, mRNA (cDNA clone MGC:116367 IMAGE:7383650), complete cdsgi|68534391|gb|BC099195.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024