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NM_001379110.1(SLC9A6):c.1307-1G>A AND Christianson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000845288.3

Allele description

NM_001379110.1(SLC9A6):c.1307-1G>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.1307-1G>A
HGVS:
  • NC_000023.11:g.136024329G>A
  • NG_017160.1:g.43903G>A
  • NG_017160.2:g.55494G>A
  • NM_001042537.2:c.1463-1G>A
  • NM_001177651.2:c.1307-1G>A
  • NM_001330652.2:c.1211-1G>A
  • NM_001379110.1:c.1307-1G>AMANE SELECT
  • NM_001400909.1:c.1307-1G>A
  • NM_001400910.1:c.1307-1G>A
  • NM_001400911.1:c.1307-1G>A
  • NM_001400912.1:c.1307-1G>A
  • NM_001400913.1:c.1211-1G>A
  • NM_006359.3:c.1367-1G>A
  • NC_000023.10:g.135106488G>A
  • c.1463-1G>A
Links:
dbSNP: rs1603215383
NCBI 1000 Genomes Browser:
rs1603215383
Molecular consequence:
  • NM_001042537.2:c.1463-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001177651.2:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001330652.2:c.1211-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379110.1:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400909.1:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400910.1:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400911.1:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400912.1:c.1307-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400913.1:c.1211-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_006359.3:c.1367-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]
Observations:
1

Condition(s)

Name:
Christianson syndrome (MRXSCH)
Synonyms:
MRXS Christianson; Angelman-like syndrome X-linked; Mental retardation microcephaly epilepsy and ataxia syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010278; MedGen: C2678194; Orphanet: 85278; OMIM: 300243

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000886641Pediatric Neurology, Northwest Women’s and Children’s Hospital
no assertion criteria provided
Pathogenic
(Sep 15, 2018)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesede novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pediatric Neurology, Northwest Women’s and Children’s Hospital, SCV000886641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024