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NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) AND Smith-Magenis Syndrome-like

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000491317.8

Allele description [Variation Report for NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)]

NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)

Gene:
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
HGVS:
  • NC_000009.12:g.6558671G>A
  • NG_016397.1:g.92022C>T
  • NM_000170.3:c.1940C>TMANE SELECT
  • NP_000161.2:p.Pro647Leu
  • NP_000161.2:p.Pro647Leu
  • LRG_643t1:c.1940C>T
  • LRG_643:g.92022C>T
  • LRG_643p1:p.Pro647Leu
  • NC_000009.11:g.6558671G>A
  • NM_000170.2:c.1940C>T
Protein change:
P647L
Links:
dbSNP: rs201135624
NCBI 1000 Genomes Browser:
rs201135624
Molecular consequence:
  • NM_000170.3:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Smith-Magenis Syndrome-like
Identifiers:
MedGen: CN238491

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299218Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics
criteria provided, single submitter

(Loviglio et al (Genome Med 2016))		Pathogenic
(Aug 15, 2016) 		inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot provided1noresearch

Citations

PubMed

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, et al.

Genome Med. 2016 Nov 1;8(1):105.

PubMed [citation]
PMID:
27799067
PMCID:
PMC5088687

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics, SCV000299218.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednoresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1Bloodnot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024