NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (2 submissions)
- 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:
- RCV001083480.8
Allele description [Variation Report for NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)]
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
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
-
Homo sapiens regulating synaptic membrane exocytosis 3, mRNA (cDNA clone MGC:188...
Homo sapiens regulating synaptic membrane exocytosis 3, mRNA (cDNA clone MGC:1884 IMAGE:3503630), complete cdsgi|13111870|gb|BC003103.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024