NM_024301.5(FKRP):c.1428G>T (p.Gly476=) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003755520.1
Allele description [Variation Report for NM_024301.5(FKRP):c.1428G>T (p.Gly476=)]
NM_024301.5(FKRP):c.1428G>T (p.Gly476=)
Condition(s)
-
Gene Links for Nucleotide (Select 1018443424) (1)
Gene
-
MIR99AHG mir-99a-let-7c cluster host gene [Homo sapiens]
MIR99AHG mir-99a-let-7c cluster host gene [Homo sapiens]Gene ID:388815Gene
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Homo sapiens mir-99a-let-7c cluster host gene (MIR99AHG), transcript variant 11,...
Homo sapiens mir-99a-let-7c cluster host gene (MIR99AHG), transcript variant 11, long non-coding RNAgi|1018443424|ref|NR_136547.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024