NM_024301.5(FKRP):c.797C>T (p.Ala266Val) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001345994.5
Allele description [Variation Report for NM_024301.5(FKRP):c.797C>T (p.Ala266Val)]
NM_024301.5(FKRP):c.797C>T (p.Ala266Val)
Condition(s)
-
acyl-CoA thioesterase [Pseudomonas viciae]
acyl-CoA thioesterase [Pseudomonas viciae]gi|1613898600|gnl|PRJNA514417|EPZ47 0|gb|QBZ92650.1|Protein
-
formate dehydrogenase [Stutzerimonas decontaminans]
formate dehydrogenase [Stutzerimonas decontaminans]gi|627773771|gnl|PRJNA242326|UIB01_ |gb|AHY42994.1|Protein
-
srfb [Hippoglossus stenolepis]
srfb [Hippoglossus stenolepis]Gene ID:118118918Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024