NM_000156.6(GAMT):c.392-5T>G AND Cerebral creatine deficiency syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003022550.3
Allele description [Variation Report for NM_000156.6(GAMT):c.392-5T>G]
NM_000156.6(GAMT):c.392-5T>G
Condition(s)
-
PREDICTED: Homo sapiens myelin regulatory factor (MYRF), transcript variant X10,...
PREDICTED: Homo sapiens myelin regulatory factor (MYRF), transcript variant X10, mRNAgi|2217284471|ref|XM_047427528.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024