NM_000156.6(GAMT):c.283G>A (p.Val95Ile) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001240165.4
Allele description [Variation Report for NM_000156.6(GAMT):c.283G>A (p.Val95Ile)]
NM_000156.6(GAMT):c.283G>A (p.Val95Ile)
Condition(s)
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Drosophila affinis voucher Cam diptericin A (dptA) gene, partial cds
Drosophila affinis voucher Cam diptericin A (dptA) gene, partial cdsgi|2642989575|gb|PP035785.1|Nucleotide
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CBXT18503.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9016699 3', m...
CBXT18503.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9016699 3', mRNA sequencegi|133829455|gnl|dbEST|45258492|gb| 532.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 85266939) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 85239282) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 85260606) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024