NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) AND Congenital stationary night blindness autosomal dominant 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277605.6
Allele description [Variation Report for NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)]
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
Condition(s)
-
Human phosphoenolpyruvate carboxykinase (PCK1) gene, complete cds with repeats
Human phosphoenolpyruvate carboxykinase (PCK1) gene, complete cds with repeatsgi|307332|gb|L12760.1|HUMPHOSANucleotide
-
lathosterol oxidase [Panthera uncia]
lathosterol oxidase [Panthera uncia]gi|2277591941|ref|XP_049476893.1|Protein
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Last Updated: Aug 4, 2024