NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs) AND Nephronophthisis 16
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003742517.1
Allele description [Variation Report for NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)]
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)
Condition(s)
-
pleckstrin homology domain-containing family H member 1 isoform X2 [Homo sapiens...
pleckstrin homology domain-containing family H member 1 isoform X2 [Homo sapiens]gi|2462541048|ref|XP_054232427.1|Protein
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Last Updated: Feb 28, 2024