NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) AND Polycystic kidney disease 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459618.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)]
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
Condition(s)
-
ALDH3A2 [Rana temporaria]
ALDH3A2 [Rana temporaria]Gene ID:120926739Gene
-
TKTL2 [Neogale vison]
TKTL2 [Neogale vison]Gene ID:122890559Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024