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NM_001379110.1(SLC9A6):c.637+1G>A AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 13, 2019
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:
RCV000850210.3

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.637+1G>A]

NM_001379110.1(SLC9A6):c.637+1G>A

Gene:
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001379110.1(SLC9A6):c.637+1G>A
HGVS:
  • NC_000023.11:g.135998969G>A
  • NG_017160.1:g.18543G>A
  • NG_017160.2:g.30134G>A
  • NM_001042537.2:c.793+1G>A
  • NM_001177651.2:c.637+1G>A
  • NM_001330652.2:c.541+1G>A
  • NM_001379110.1:c.637+1G>AMANE SELECT
  • NM_001400909.1:c.637+1G>A
  • NM_001400910.1:c.637+1G>A
  • NM_001400911.1:c.637+1G>A
  • NM_001400912.1:c.637+1G>A
  • NM_001400913.1:c.541+1G>A
  • NM_006359.3:c.697+1G>A
  • NC_000023.10:g.135081128G>A
  • NM_001042537.1:c.793+1G>A
Links:
dbSNP: rs1603198937
NCBI 1000 Genomes Browser:
rs1603198937
Molecular consequence:
  • NM_001042537.2:c.793+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001177651.2:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330652.2:c.541+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001379110.1:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001400909.1:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001400910.1:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001400911.1:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001400912.1:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001400913.1:c.541+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006359.3:c.697+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897748Raymond Lab, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 13, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providedyesresearch

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 Raymond Lab, University of Cambridge, SCV000897748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 30, 2023