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NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu) AND Intellectual developmental disorder 62

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002274485.2

Allele description [Variation Report for NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)]

NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)

Gene:
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)
HGVS:
  • NC_000017.11:g.7193569G>A
  • NG_008391.2:g.31482C>T
  • NG_008391.3:g.31481C>T
  • NM_001128827.4:c.1598C>T
  • NM_001321074.1:c.1727C>T
  • NM_001321075.3:c.1607C>TMANE SELECT
  • NM_001321076.3:c.1427C>T
  • NM_001321077.3:c.1427C>T
  • NM_001365.5:c.1736C>T
  • NM_001369566.3:c.1526C>T
  • NP_001122299.1:p.Pro533Leu
  • NP_001308003.1:p.Pro576Leu
  • NP_001308004.1:p.Pro536Leu
  • NP_001308005.1:p.Pro476Leu
  • NP_001308006.1:p.Pro476Leu
  • NP_001356.1:p.Pro579Leu
  • NP_001356.1:p.Pro579Leu
  • NP_001356495.1:p.Pro509Leu
  • NC_000017.10:g.7096888G>A
  • NM_001365.4:c.1736C>T
  • NR_135527.1:n.2937C>T
Protein change:
P476L
Links:
dbSNP: rs2142825745
NCBI 1000 Genomes Browser:
rs2142825745
Molecular consequence:
  • NM_001128827.4:c.1598C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321074.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321075.3:c.1607C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321076.3:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321077.3:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365.5:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369566.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135527.1:n.2937C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual developmental disorder 62
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 62; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
Identifiers:
MONDO: MONDO:0032919; MedGen: C5394083; OMIM: 618793

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002558842Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
no assertion criteria provided
Likely pathogenicde novoresearch

Help

Summary from all submissions

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

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002558842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023