NM_024301.5(FKRP):c.591T>C (p.Asp197=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Likely benign (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:
- RCV003756162.2
Allele description [Variation Report for NM_024301.5(FKRP):c.591T>C (p.Asp197=)]
NM_024301.5(FKRP):c.591T>C (p.Asp197=)
Condition(s)
-
tight junction protein ZO-2 isoform X1 [Prionailurus viverrinus]
tight junction protein ZO-2 isoform X1 [Prionailurus viverrinus]gi|2228958671|ref|XP_047686239.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024