NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) AND Enhanced S-cone syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833696.4
Allele description [Variation Report for NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)]
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)
Condition(s)
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Melilotus albus voucher MONT:87454 tRNA-Leu (trnL-UAA) gene, intron; chloroplast
Melilotus albus voucher MONT:87454 tRNA-Leu (trnL-UAA) gene, intron; chloroplastgi|2718040451|gb|PP648083.1|Nucleotide
-
Melilotus albus voucher MONT:87454 maturase K (matk) gene, partial cds; chloropl...
Melilotus albus voucher MONT:87454 maturase K (matk) gene, partial cds; chloroplastgi|2718040969|gb|PP648136.1|Nucleotide
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Melilotus albus strain Margot Forde Forage Germplasm Centre Accession AL1850 18S...
Melilotus albus strain Margot Forde Forage Germplasm Centre Accession AL1850 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|85724127|gb|DQ311984.1|Nucleotide
-
Homo sapiens phosphodiesterase 7A (PDE7A), RefSeqGene on chromosome 8; nuclear g...
Homo sapiens phosphodiesterase 7A (PDE7A), RefSeqGene on chromosome 8; nuclear gene for mitochondrial productgi|342349295|ref|NG_029614.1|Nucleotide
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chst11 [Pungitius pungitius]
chst11 [Pungitius pungitius]Gene ID:119211138Gene
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Last Updated: Oct 8, 2024