NM_001079802.2(FKTN):c.588C>T (p.Asp196=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001454192.7
Allele description [Variation Report for NM_001079802.2(FKTN):c.588C>T (p.Asp196=)]
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)
Condition(s)
-
CERS3 [Eptesicus fuscus]
CERS3 [Eptesicus fuscus]Gene ID:103301954Gene
-
UXS1 [Neogale vison]
UXS1 [Neogale vison]Gene ID:122916412Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024