NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jul 19, 2016)

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:
RCV000477756.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)]

NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)
HGVS:
  • NC_000010.11:g.53840446A>T
  • NG_009191.3:g.1793737T>A
  • NM_001142763.2:c.3872T>A
  • NM_001142764.2:c.3857T>A
  • NM_001142765.2:c.3644T>A
  • NM_001142766.2:c.3857T>A
  • NM_001142767.2:c.3746T>A
  • NM_001142768.2:c.3791T>A
  • NM_001142769.3:c.3893T>A
  • NM_001142770.3:c.3857T>A
  • NM_001142771.2:c.3872T>A
  • NM_001142772.2:c.3857T>A
  • NM_001142773.2:c.3791T>A
  • NM_001354404.2:c.3791T>A
  • NM_001354411.2:c.3878T>A
  • NM_001354420.2:c.3857T>A
  • NM_001354429.2:c.3857T>A
  • NM_001384140.1:c.3857T>AMANE SELECT
  • NM_033056.4:c.3857T>A
  • NP_001136235.1:p.Val1291Glu
  • NP_001136236.1:p.Val1286Glu
  • NP_001136237.1:p.Val1215Glu
  • NP_001136238.1:p.Val1286Glu
  • NP_001136239.1:p.Val1249Glu
  • NP_001136240.1:p.Val1264Glu
  • NP_001136241.1:p.Val1298Glu
  • NP_001136242.1:p.Val1286Glu
  • NP_001136243.1:p.Val1291Glu
  • NP_001136244.1:p.Val1286Glu
  • NP_001136245.1:p.Val1264Glu
  • NP_001341333.1:p.Val1264Glu
  • NP_001341340.1:p.Val1293Glu
  • NP_001341349.1:p.Val1286Glu
  • NP_001341358.1:p.Val1286Glu
  • NP_001371069.1:p.Val1286Glu
  • NP_149045.3:p.Val1286Glu
  • NC_000010.10:g.55600206A>T
  • NM_033056.3:c.3857T>A
Protein change:
V1215E
Links:
dbSNP: rs375292203
NCBI 1000 Genomes Browser:
rs375292203
Molecular consequence:
  • NM_001142763.2:c.3872T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.3644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.3746T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.3791T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.3893T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.3872T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.3791T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.3791T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.3878T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.3857T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 23 (DFNB23)
Identifiers:
MONDO: MONDO:0012293; MedGen: C1836027; Orphanet: 90636; OMIM: 609533
Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067
Name:
Usher syndrome type 1F (USH1F)
Synonyms:
USHER SYNDROME, TYPE IF
Identifiers:
MONDO: MONDO:0011186; MedGen: C1865885; Orphanet: 231169; Orphanet: 886; OMIM: 602083

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536897Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedUncertain significance
(Jul 19, 2016)
maternalresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536897.1

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

Last Updated: Nov 6, 2021

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