NM_000539.3(RHO):c.489G>A (p.Met163Ile) AND Retinitis pigmentosa 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003389585.1
Allele description [Variation Report for NM_000539.3(RHO):c.489G>A (p.Met163Ile)]
NM_000539.3(RHO):c.489G>A (p.Met163Ile)
Condition(s)
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PREDICTED: Danio rerio very low density lipoprotein receptor (vldlr), transcript...
PREDICTED: Danio rerio very low density lipoprotein receptor (vldlr), transcript variant X4, mRNAgi|2800546840|ref|XM_021479122.2|Nucleotide
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hCG40688, isoform CRA_a [Homo sapiens]
hCG40688, isoform CRA_a [Homo sapiens]gi|119597929|gb|EAW77523.1||gnl|WGS |hCP50444Protein
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Homo sapiens nuclear receptor subfamily 1 group D member 1 (NR1D1), RefSeqGene o...
Homo sapiens nuclear receptor subfamily 1 group D member 1 (NR1D1), RefSeqGene on chromosome 17gi|440309878|ref|NG_033084.1|Nucleotide
-
zv31g07.r1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:755292 5', mRN...
zv31g07.r1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:755292 5', mRNA sequencegi|2101029|gnl|dbEST|1066212|gb|AA4 .1|Nucleotide
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Last Updated: Nov 25, 2023