NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) AND Marfanoid habitus and intellectual disability

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850413.1

Allele description [Variation Report for NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)]

NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)

Gene:
SLC6A1:solute carrier family 6 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)
HGVS:
  • NC_000003.12:g.11031230C>A
  • NG_053003.1:g.43502C>A
  • NM_001348250.1:c.1377C>A
  • NM_001348251.1:c.1017C>A
  • NM_001348252.1:c.843C>A
  • NM_001348253.1:c.843C>A
  • NM_003042.4:c.1377C>AMANE SELECT
  • NP_001335179.1:p.Ser459Arg
  • NP_001335180.1:p.Ser339Arg
  • NP_001335181.1:p.Ser281Arg
  • NP_001335182.1:p.Ser281Arg
  • NP_003033.3:p.Ser459Arg
  • NC_000003.11:g.11072916C>A
  • NM_003042.3:c.1377C>A
Protein change:
S281R
Links:
dbSNP: rs1064795099
NCBI 1000 Genomes Browser:
rs1064795099
Molecular consequence:
  • NM_001348250.1:c.1377C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348251.1:c.1017C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348252.1:c.843C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348253.1:c.843C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003042.4:c.1377C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Marfanoid habitus and intellectual disability
Identifiers:
MedGen: CN263130

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992611Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenicde novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000992611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

Support Center