NM_000156.6(GAMT):c.181+2T>C AND Cerebral creatine deficiency syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002040462.3
Allele description [Variation Report for NM_000156.6(GAMT):c.181+2T>C]
NM_000156.6(GAMT):c.181+2T>C
Condition(s)
-
LOC115198707 [Salmo trutta]
LOC115198707 [Salmo trutta]Gene ID:115198707Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024