NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs) AND Polycystic kidney disease 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003471700.1
Allele description [Variation Report for NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)]
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
Condition(s)
-
Monocular esotropia
Monocular esotropiaMedGen
-
C0152204[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024