NM_153676.4(USH1C):c.2380+1G>C AND Deafness, autosomal recessive 18

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2018)

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:
RCV000735772.1

Allele description [Variation Report for NM_153676.4(USH1C):c.2380+1G>C]

NM_153676.4(USH1C):c.2380+1G>C

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.2380+1G>C
HGVS:
  • NC_000011.10:g.17501050C>G
  • NG_011883.1:g.48367G>C
  • NG_011883.2:g.48367G>C
  • NM_001297764.2:c.1423+1G>C
  • NM_005709.4:c.1480+1G>C
  • NM_153676.4:c.2380+1G>CMANE SELECT
  • NC_000011.9:g.17522597C>G
  • NM_153676.3:c.2380+1G>C
Links:
dbSNP: rs1060499916
NCBI 1000 Genomes Browser:
rs1060499916
Molecular consequence:
  • NM_001297764.2:c.1423+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005709.4:c.1480+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153676.4:c.2380+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Deafness, autosomal recessive 18 (DFNB18A)
Synonyms:
Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000863933Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedPathogenic
(Sep 3, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000863933.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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