NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) AND DPM3-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814469.3
Allele description [Variation Report for NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)]
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
Condition(s)
- Name:
- DPM3-congenital disorder of glycosylation (MDDGC15)
- Synonyms:
- CDG Io; CDG1(DPM3); Congenital disorder of glycosylation type 1O; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013049; MedGen: C2752007; Orphanet: 263494; OMIM: 612937
-
response regulator [Leptospira biflexa]
response regulator [Leptospira biflexa]gi|501355961|ref|WP_012387527.1|Protein
-
Homo sapiens 211000035830235 genomic scaffold, whole genome shotgun sequence
Homo sapiens 211000035830235 genomic scaffold, whole genome shotgun sequencegi|71514537|gb|CH471167.1||gnl|WGS: 211000035830235Nucleotide
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|26333421|dbj|BAC30428.1|Protein
-
twisted gastrulation protein [Mus musculus]
twisted gastrulation protein [Mus musculus]gi|9965413|gb|AAG10080.1|AF295097_1Protein
-
RPAP2 RNA polymerase II associated protein 2 [Homo sapiens]
RPAP2 RNA polymerase II associated protein 2 [Homo sapiens]Gene ID:79871Gene
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024