NM_000156.6(GAMT):c.283G>A (p.Val95Ile) AND Deficiency of guanidinoacetate methyltransferase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828947.1
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)
-
ninjurin-1 [Homo sapiens]
ninjurin-1 [Homo sapiens]gi|148922911|ref|NP_004139.2|Protein
-
glycerophosphodiester phosphodiesterase 1 [Mus musculus]
glycerophosphodiester phosphodiesterase 1 [Mus musculus]gi|9625018|ref|NP_062526.1|Protein
-
Homo sapiens defensin, beta 105B, mRNA (cDNA clone MGC:156232 IMAGE:40119533), c...
Homo sapiens defensin, beta 105B, mRNA (cDNA clone MGC:156232 IMAGE:40119533), complete cdsgi|118764050|gb|BC128437.1|Nucleotide
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Last Updated: Sep 29, 2024