NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000866712.11
Allele description [Variation Report for NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)]
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
Condition(s)
- Name:
- Autosomal recessive polycystic kidney disease (ARPKD)
- Synonyms:
- POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378
-
PSB4, partial [Poeciliopsis prolifica]
PSB4, partial [Poeciliopsis prolifica]gi|958839866|gb|JAO87949.1||gnl|TSA |comp189981_c0_seq1_1Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024