NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) AND Nephronophthisis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000335529.10
Allele description [Variation Report for NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)]
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
protein phosphatase 1 regulatory subunit 1B isoform X1 [Camelus ferus]
protein phosphatase 1 regulatory subunit 1B isoform X1 [Camelus ferus]gi|1811004493|ref|XP_032313813.1|Protein
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hypothetical protein pp2_054 [Vibrio phage phi-pp2]
hypothetical protein pp2_054 [Vibrio phage phi-pp2]gi|394774616|gb|AFN37288.1|Protein
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TT-13_L04 K326 late senescent leaf library Nicotiana tabacum cDNA, mRNA sequence
TT-13_L04 K326 late senescent leaf library Nicotiana tabacum cDNA, mRNA sequencegi|190142748|gnl|dbEST|57954339|gb| 947.1|Nucleotide
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TC101988 Human adult whole brain, large insert, pCMV expression library Homo sap...
TC101988 Human adult whole brain, large insert, pCMV expression library Homo sapiens cDNA clone TC101988 5' similar to Homo sapiens similar to hypothetical protein [Macaca fascicularis] (LOC255779), mRNA sequencegi|66252020|gnl|dbEST|28896089|gb|D 89.1|Nucleotide
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Last Updated: Sep 29, 2024