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NM_001650.7(AQP4):c.332G>C (p.Ser111Thr) AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2017
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:
RCV000515759.2

Allele description [Variation Report for NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)]

NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)

Gene:
AQP4:aquaporin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)
HGVS:
  • NC_000018.10:g.26862297C>G
  • NG_029560.1:g.8456G>C
  • NM_001317384.3:c.332G>C
  • NM_001317387.3:c.332G>C
  • NM_001364286.1:c.266G>C
  • NM_001364287.1:c.266G>C
  • NM_001364289.2:c.266G>C
  • NM_001650.7:c.332G>CMANE SELECT
  • NM_004028.5:c.266G>C
  • NP_001304313.1:p.Ser111Thr
  • NP_001304316.1:p.Ser111Thr
  • NP_001351215.1:p.Ser89Thr
  • NP_001351216.1:p.Ser89Thr
  • NP_001351218.1:p.Ser89Thr
  • NP_001641.1:p.Ser111Thr
  • NP_004019.1:p.Ser89Thr
  • NC_000018.9:g.24442261C>G
  • NM_001650.4:c.332G>C
Protein change:
S111T
Links:
dbSNP: rs1555661648
NCBI 1000 Genomes Browser:
rs1555661648
Molecular consequence:
  • NM_001317384.3:c.332G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317387.3:c.332G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364286.1:c.266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364287.1:c.266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364289.2:c.266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001650.7:c.332G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004028.5:c.266G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence
Observations:
1

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
SCV000611625Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital
no assertion criteria provided
Likely pathogenic
(Nov 1, 2017) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, SCV000611625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Case report accepted by Molecular Case Studies

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 30, 2023