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NM_001384474.1(LOXHD1):c.3351-1G>A AND Autosomal recessive nonsyndromic hearing loss 77

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2020
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:
RCV001261865.3

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.3351-1G>A]

NM_001384474.1(LOXHD1):c.3351-1G>A

Gene:
LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_001384474.1(LOXHD1):c.3351-1G>A
HGVS:
  • NC_000018.10:g.46547059C>T
  • NG_016646.2:g.114975G>A
  • NM_001145472.3:c.18-1G>A
  • NM_001308013.2:c.-271-1G>A
  • NM_001384474.1:c.3351-1G>AMANE SELECT
  • NM_144612.7:c.3351-1G>A
  • NC_000018.9:g.44127022C>T
  • NM_144612.6:c.3351-1G>A
Links:
dbSNP: rs868646051
NCBI 1000 Genomes Browser:
rs868646051
Molecular consequence:
  • NM_001145472.3:c.18-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001308013.2:c.-271-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001384474.1:c.3351-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_144612.7:c.3351-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 77
Synonyms:
Deafness, autosomal recessive 77
Identifiers:
MONDO: MONDO:0013119; MedGen: C2746083; Orphanet: 90636; OMIM: 613079

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001439204Center for Molecular Medicine, Children’s Hospital of Fudan University
no assertion criteria provided
Pathogenic
(Sep 30, 2020) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV001439204.1

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

Last Updated: Feb 28, 2024