NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000815633.10
Allele description [Variation Report for NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)]
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)
Condition(s)
-
RPM1-interacting protein 4-like [Cucurbita moschata]
RPM1-interacting protein 4-like [Cucurbita moschata]gi|1279803059|ref|XP_022954832.1|Protein
-
PREDICTED: RPM1-interacting protein 4 [Cucumis sativus]
PREDICTED: RPM1-interacting protein 4 [Cucumis sativus]gi|449469600|ref|XP_004152507.1|Protein
-
hypothetical protein PRUPE_ppa022529mg [Prunus persica]
hypothetical protein PRUPE_ppa022529mg [Prunus persica]gi|596240257|ref|XP_007224460.1||gn _WGS:AKXU|PRUPE_ppa022529mpProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024