NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) AND Polycystic kidney disease 4
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Mar 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331692.5
Allele description [Variation Report for NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)]
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
Condition(s)
-
long-chain fatty acid transporter FadL [Edwardsiella piscicida]
long-chain fatty acid transporter FadL [Edwardsiella piscicida]gi|502612303|ref|WP_012849280.1|Protein
-
Cyclin N-terminal domain containing 1 [Mus musculus]
Cyclin N-terminal domain containing 1 [Mus musculus]gi|13905148|gb|AAH06866.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024