NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys) AND Autism spectrum disorder

Clinical significance:association

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:
RCV001291176.1

Allele description [Variation Report for NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)]

NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)

Gene:
KCNK9:potassium two pore domain channel subfamily K member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)
HGVS:
  • NC_000008.11:g.139618476G>A
  • NG_012842.2:g.89581C>T
  • NG_012842.3:g.89581C>T
  • NM_001282534.2:c.907C>TMANE SELECT
  • NP_001269463.1:p.Arg303Cys
  • LRG_1042t1:c.907C>T
  • LRG_1042:g.89581C>T
  • LRG_1042p1:p.Arg303Cys
  • NC_000008.10:g.140630719G>A
  • NR_104210.2:n.1038C>T
Protein change:
R303C
Molecular consequence:
  • NM_001282534.2:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104210.2:n.1038C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders; Autism susceptibility
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586; OMIM: PS209850

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001479580University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedassociationde 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

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3.

PubMed [citation]
PMID:
30504930
PMCID:
PMC6546556

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479580.1

#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: Oct 2, 2021

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