NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val) AND Creatine deficiency, X-linked

Clinical significance:Pathogenic (Last evaluated: Nov 14, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012469.15

Allele description [Variation Report for NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val)]

NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val)

Gene:
SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val)
HGVS:
  • NC_000023.11:g.153691304G>T
  • NG_012016.1:g.8008G>T
  • NM_005629.3:c.395G>T
  • NP_005620.1:p.Gly132Val
  • NC_000023.10:g.152956759G>T
  • P48029:p.Gly132Val
Protein change:
G132V; GLY132VAL
Links:
UniProtKB: P48029#VAR_063707; OMIM: 300036.0008; dbSNP: rs122453117
NCBI 1000 Genomes Browser:
rs122453117
Molecular consequence:
  • NM_005629.3:c.395G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Creatine deficiency, X-linked (CCDS1)
Synonyms:
CREATINE TRANSPORTER DEFECT; Creatine Deficiency Syndromes; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; See all synonyms [MedGen]
Identifiers:
MedGen: C1845862; Orphanet: 52503; OMIM: 300352

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032703OMIMno assertion criteria providedPathogenic
(Nov 14, 2006)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V.

Neurology. 2006 Nov 14;67(9):1713-4. No abstract available.

PubMed [citation]
PMID:
17101918

Details of each submission

From OMIM, SCV000032703.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4-year-old boy with creatine deficiency syndrome and severe mental retardation (300352), Lion-Francois et al. (2006) identified a 395G-T transversion in the SLC6A8 gene, resulting in a gly132-to-val (G132V) substitution. The patient had delayed onset of walking and autistic behavior.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018