NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val) AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002958689.1
Allele description [Variation Report for NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)]
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
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
-
cdc42 effector protein 4 [Mus musculus]
cdc42 effector protein 4 [Mus musculus]gi|254039694|ref|NP_001156818.1|Protein
-
Rattus norvegicus TL0ACA48YC21 mRNA sequence
Rattus norvegicus TL0ACA48YC21 mRNA sequencegi|298896322|emb|FQ215456.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024