NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) AND Nephronophthisis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000466608.11
Allele description [Variation Report for NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)]
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
PREDICTED: Homo sapiens hephaestin (HEPH), transcript variant X7, mRNA
PREDICTED: Homo sapiens hephaestin (HEPH), transcript variant X7, mRNAgi|2217397228|ref|XM_017029998.3|Nucleotide
-
Chain A, Cellular retinoic acid-binding protein 2
Chain A, Cellular retinoic acid-binding protein 2gi|254839596|pdb|3I17|AProtein
-
Gliomastix masseei gene for 28S rRNA, partial sequence, strain: T61017-2-1
Gliomastix masseei gene for 28S rRNA, partial sequence, strain: T61017-2-1gi|310687346|dbj|AB540449.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 1, 2024