NM_002103.5(GYS1):c.1401T>C (p.Asn467=) AND Glycogen storage disease due to muscle and heart glycogen synthase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000903090.9
Allele description [Variation Report for NM_002103.5(GYS1):c.1401T>C (p.Asn467=)]
NM_002103.5(GYS1):c.1401T>C (p.Asn467=)
Condition(s)
-
NOP56[gene] (90)
ClinVar
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PREDICTED: Homo sapiens retinoic acid induced 14 (RAI14), transcript variant X6,...
PREDICTED: Homo sapiens retinoic acid induced 14 (RAI14), transcript variant X6, mRNAgi|2462602011|ref|XM_054352343.1|Nucleotide
-
ankycorbin isoform X2 [Homo sapiens]
ankycorbin isoform X2 [Homo sapiens]gi|2462602016|ref|XP_054208320.1|Protein
-
Homo sapiens NOP56 ribonucleoprotein (NOP56), transcript variant 3, non-coding R...
Homo sapiens NOP56 ribonucleoprotein (NOP56), transcript variant 3, non-coding RNAgi|1701948223|ref|NR_145428.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024