NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002461911.2
Allele description [Variation Report for NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=)]
NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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protein NDRG4 isoform 15 [Homo sapiens]
protein NDRG4 isoform 15 [Homo sapiens]gi|1807437196|ref|NP_001365269.1|Protein
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601441288F1 NIH_MGC_72 Homo sapiens cDNA clone IMAGE:3916293 5', mRNA sequence
601441288F1 NIH_MGC_72 Homo sapiens cDNA clone IMAGE:3916293 5', mRNA sequencegi|9893426|gnl|dbEST|5841209|gb|BE6 .1|Nucleotide
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killer cell lectin-like receptor subfamily G member 1 isoform X1 [Homo sapiens]
killer cell lectin-like receptor subfamily G member 1 isoform X1 [Homo sapiens]gi|1034577561|ref|XP_016874173.1|Protein
-
Homo sapiens NDRG family member 4 (NDRG4), RefSeqGene on chromosome 16
Homo sapiens NDRG family member 4 (NDRG4), RefSeqGene on chromosome 16gi|729719234|ref|NG_041803.1|Nucleotide
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X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with abnormal genitaliaMedGen
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Last Updated: Sep 29, 2024