NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633438.8
Allele description [Variation Report for NM_138694.4(PKHD1):c.9546A>G (p.Val3182=)]
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=)
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
-
Mus musculus transmembrane 4 superfamily member 1 (Tm4sf1), transcript variant 1...
Mus musculus transmembrane 4 superfamily member 1 (Tm4sf1), transcript variant 1, mRNAgi|1240431702|ref|NM_008536.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024