NM_024301.5(FKRP):c.832A>G (p.Ser278Gly) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003121827.3
Allele description [Variation Report for NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)]
NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)
Condition(s)
-
Mus musculus NDC1 transmembrane nucleoporin (Ndc1), transcript variant 1, mRNA
Mus musculus NDC1 transmembrane nucleoporin (Ndc1), transcript variant 1, mRNAgi|1783658114|ref|NM_028355.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024