NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) AND Abnormality of brain morphology

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000454309.1

Allele description [Variation Report for NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)]

NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)

Genes:
AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)
HGVS:
  • NC_000001.11:g.113900063A>G
  • NG_031901.1:g.10057T>C
  • NG_057565.1:g.445A>G
  • NM_001253852.3:c.955T>CMANE SELECT
  • NM_001253853.3:c.658T>C
  • NM_001308312.2:c.451T>C
  • NM_006594.5:c.955T>C
  • NP_001240781.1:p.Phe319Leu
  • NP_001240782.1:p.Phe220Leu
  • NP_001295241.1:p.Phe151Leu
  • NP_006585.2:p.Phe319Leu
  • LRG_1219:g.445A>G
  • NC_000001.10:g.114442685A>G
  • NM_006594.4:c.955T>C
  • NR_037864.1:n.560A>G
  • NR_125965.1:n.728A>G
Protein change:
F151L
Links:
dbSNP: rs1060499771
NCBI 1000 Genomes Browser:
rs1060499771
Molecular consequence:
  • NM_001253852.3:c.955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001253853.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308312.2:c.451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006594.5:c.955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037864.1:n.560A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125965.1:n.728A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Abnormality of brain morphology
Synonyms:
Abnormality of the brain; Abnormal shape of brain
Identifiers:
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537986Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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