NM_000155.4(GALT):c.683G>C (p.Arg228Thr) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000386913.4
Allele description [Variation Report for NM_000155.4(GALT):c.683G>C (p.Arg228Thr)]
NM_000155.4(GALT):c.683G>C (p.Arg228Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
40984[uid] (1)
Taxonomy
-
Pantoea conspicua strain LMG 24534 Contig0111_, whole genome shotgun sequence
Pantoea conspicua strain LMG 24534 Contig0111_, whole genome shotgun sequencegi|1227886057|ref|NZ_MLFN01000111.1 |WGS:NZ_MLFN01|Contig0111_Nucleotide
-
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasiaMedGen
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See more...Assertion and evidence details
Last Updated: Apr 1, 2023