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NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) AND Autosomal recessive nonsyndromic hearing loss 67

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2018
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:
RCV000681540.3

Allele description [Variation Report for NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)]

NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)

Gene:
LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
HGVS:
  • NC_000006.12:g.35814585G>T
  • NG_012184.2:g.14292G>T
  • NM_182548.4:c.452G>TMANE SELECT
  • NP_872354.1:p.Gly151Val
  • LRG_1352t1:c.452G>T
  • LRG_1352p1:p.Gly151Val
  • NC_000006.11:g.35782362G>T
  • NG_012184.1:g.14292G>T
  • NM_182548.3:c.452G>T
Protein change:
G151V
Links:
dbSNP: rs762876554
NCBI 1000 Genomes Browser:
rs762876554
Molecular consequence:
  • NM_182548.4:c.452G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 67
Synonyms:
Deafness, autosomal recessive 67
Identifiers:
MONDO: MONDO:0012460; MedGen: C1853223; Orphanet: 90636; OMIM: 610265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000807732National Institute on Deafness and Communication Disorders, National Institutes of Health
no assertion criteria provided
Pathogenic
(Jul 5, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

Details of each submission

From National Institute on Deafness and Communication Disorders, National Institutes of Health, SCV000807732.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 29, 2024