NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) AND Retinitis pigmentosa 40
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 1995
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000013987.25
Allele description [Variation Report for NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)]
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)
Condition(s)
-
baculoviral IAP repeat-containing protein 6 isoform X26 [Homo sapiens]
baculoviral IAP repeat-containing protein 6 isoform X26 [Homo sapiens]gi|2462575560|ref|XP_054199129.1|Protein
-
Haplochromis gracilifur voucher RMCA:2017.006.P.0005 - DNA1797 cytochrome c oxid...
Haplochromis gracilifur voucher RMCA:2017.006.P.0005 - DNA1797 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|1845959966|gb|MT523228.1|Nucleotide
-
MULTISPECIES: uridine phosphorylase [Streptococcus]
MULTISPECIES: uridine phosphorylase [Streptococcus]gi|447104804|ref|WP_001182060.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024