NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg) AND Griscelli syndrome type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003504780.2
Allele description [Variation Report for NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)]
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
Condition(s)
-
ETNPPL [Mustela nigripes]
ETNPPL [Mustela nigripes]Gene ID:132002079Gene
-
PREDICTED: Mus musculus trinucleotide repeat containing 18 (Tnrc18), transcript ...
PREDICTED: Mus musculus trinucleotide repeat containing 18 (Tnrc18), transcript variant X5, mRNAgi|1039771464|ref|XM_006504689.3|Nucleotide
-
PREDICTED: Mus musculus CLIP associating protein 2 (Clasp2), transcript variant ...
PREDICTED: Mus musculus CLIP associating protein 2 (Clasp2), transcript variant X13, mRNAgi|1039794610|ref|XM_006512394.3|Nucleotide
-
ammonium transporter 1 member 1-like [Benincasa hispida]
ammonium transporter 1 member 1-like [Benincasa hispida]gi|1955839218|ref|XP_038875731.1|Protein
-
ammonium transporter 1 member 1-like [Cucurbita maxima]
ammonium transporter 1 member 1-like [Cucurbita maxima]gi|1281032055|ref|XP_023000492.1|Protein
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Last Updated: Sep 29, 2024