NM_000156.6(GAMT):c.306G>A (p.Trp102Ter) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003747352.2
Allele description [Variation Report for NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)]
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
Condition(s)
-
hypothetical protein SSSM5_072 [Synechococcus phage S-SSM5]
hypothetical protein SSSM5_072 [Synechococcus phage S-SSM5]gi|326784371|ref|YP_004324675.1|Protein
-
D-glycerate dehydrogenase [Fuscovulum ytuae]
D-glycerate dehydrogenase [Fuscovulum ytuae]gi|2500976872|gnl|PRJNA958438|QF092 0|gb|WGV17703.1|Protein
-
The included studies in the updated review - Models and applications for measuri...
The included studies in the updated review - Models and applications for measuring the impact of health research: update of a systematic review for the Health Technology Assessment programme
-
Ndufa4 [Mastomys coucha]
Ndufa4 [Mastomys coucha]Gene ID:116098581Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024