NM_138694.4(PKHD1):c.130+9G>A AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001088979.8
Allele description [Variation Report for NM_138694.4(PKHD1):c.130+9G>A]
NM_138694.4(PKHD1):c.130+9G>A
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
-
Arabidopsis thaliana Clathrin adaptor complexes medium subunit family protein (A...
Arabidopsis thaliana Clathrin adaptor complexes medium subunit family protein (AT5G46630), mRNAgi|1063736547|ref|NM_124033.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 10, 2024