NM_024301.5(FKRP):c.1242C>T (p.His414=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002078622.6
Allele description [Variation Report for NM_024301.5(FKRP):c.1242C>T (p.His414=)]
NM_024301.5(FKRP):c.1242C>T (p.His414=)
Condition(s)
-
Mus musculus SAYSVFN motif domain containing 1 (Saysd1), mRNA
Mus musculus SAYSVFN motif domain containing 1 (Saysd1), mRNAgi|218751887|ref|NM_026209.1|Nucleotide
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JGI_CAAO4093.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4093 5', mRNA...
JGI_CAAO4093.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4093 5', mRNA sequencegi|58724688|gnl|dbEST|27641849|gb|C 30.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 131928374) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 131981783) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 131955439) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024