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:
- RCV000903090.8
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)
-
LOC106752863 [Vigna radiata]
LOC106752863 [Vigna radiata]Gene ID:106752863Gene
-
osteocalcin [Sparus aurata]
osteocalcin [Sparus aurata]gi|1724777593|ref|XP_030264301.1|Protein
-
Diploidy
DiploidyThe chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.<br/>Year introduced: 1968MeSH
-
Gm4872 predicted gene 4872 [Mus musculus]
Gm4872 predicted gene 4872 [Mus musculus]Gene ID:231989Gene
-
SPATA31C2 SPATA31 subfamily C member 2 [Homo sapiens]
SPATA31C2 SPATA31 subfamily C member 2 [Homo sapiens]Gene ID:645961Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024