NM_002435.3(MPI):c.156G>A (p.Gly52=) AND MPI-congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001455810.7
Allele description [Variation Report for NM_002435.3(MPI):c.156G>A (p.Gly52=)]
NM_002435.3(MPI):c.156G>A (p.Gly52=)
Condition(s)
- Name:
- MPI-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG Ib; Congenital disorder of glycosylation type 1B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011257; MedGen: C1865145; Orphanet: 79319; OMIM: 602579
-
uncharacterized protein EKO05_0007645 [Ascochyta rabiei]
uncharacterized protein EKO05_0007645 [Ascochyta rabiei]gi|1955516928|ref|XP_038797213.1|Protein
-
F410_gp087 [Erwinia phage vB_EamP-S6]
F410_gp087 [Erwinia phage vB_EamP-S6]Gene ID:14013775Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024