Retinal Degeneration 3

Alternative Names

RD3
Retinal Degeneration 3, Mouse, Homolog Of
Chromosome 1 Open Reading Frame 36
C1orf36

Length

15,641 bases

No. of Exons

No. of isoforms

Protein Name

Protein RD3

Molecular Mass

22704 Da

Amino Acid Count

195

Genomic Location

chr1:211,476,521-211,492,161

Gene Map Locus

1q32.3

Description

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_183059.2:c.112C>T	Lebanon; Morocco	NC_000001.11:g.211481304G>A	Pathogenic	Pathogenic	Leber Congenital Amaurosis 12	NG_013042.1:g.16614C>T; NM_183059.2:c.112C>T; NP_898882.1:p.Arg38Ter	786205148	189792
NM_183059.2:c.137_138del	Algeria	NC_000001.11:g.211481279_211481280del	Pathogenic	Pathogenic	Leber Congenital Amaurosis 12	NG_013042.1:g.16639_16640del; NM_183059.2:c.137_138del; NP_898882.1:p.Glu46AlafsTer26	786205149	189793

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=rd3

Contributors

Sami Bizzari: 14.01.2021

Edit History

Sami Bizzari: 14.01.2021

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