NM_001567.4(INPPL1):c.1436G>A (p.Arg479His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004398212.1
Allele description [Variation Report for NM_001567.4(INPPL1):c.1436G>A (p.Arg479His)]
NM_001567.4(INPPL1):c.1436G>A (p.Arg479His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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PREDICTED: Homo sapiens AGBL carboxypeptidase 5 (AGBL5), transcript variant X7, ...
PREDICTED: Homo sapiens AGBL carboxypeptidase 5 (AGBL5), transcript variant X7, mRNAgi|2462575815|ref|XM_054343281.1|Nucleotide
-
Hydrogenimonas thermophila strain SWIR-21 chromosome, complete genome
Hydrogenimonas thermophila strain SWIR-21 chromosome, complete genomegi|2593382182|gb|CP136593.1|Nucleotide
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Homo sapiens nuclear receptor subfamily 1, group H, member 4, mRNA (cDNA clone M...
Homo sapiens nuclear receptor subfamily 1, group H, member 4, mRNA (cDNA clone MGC:163445 IMAGE:40146604), complete cdsgi|120660273|gb|BC130573.1|Nucleotide
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RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; AltName: Full=L...
RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; AltName: Full=Lysyl hydroxylase 2; Short=LH2; Flags: Precursorgi|62900635|sp|Q811A3.1|PLOD2_RATProtein
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602387423F1 NIH_MGC_93 Homo sapiens cDNA clone IMAGE:4516421 5', mRNA sequence
602387423F1 NIH_MGC_93 Homo sapiens cDNA clone IMAGE:4516421 5', mRNA sequencegi|13045016|gnl|dbEST|7928091|gb|BG 6.1|Nucleotide
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Last Updated: May 7, 2024