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NM_001173129.1(LOXHD1):c.*18G>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Jun 11, 2013
Accession:
VCV000178982.1
Variation ID:
178982
Description:
single nucleotide variant
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NM_001173129.1(LOXHD1):c.*18G>T

Allele ID
176548
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q21.1
Genomic location
18: 46477200 (GRCh38) GRCh38 UCSC
18: 44057163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.9:g.44057163C>A
NC_000018.10:g.46477200C>A
NM_001145472.3:c.3328G>T NP_001138944.1:p.Ala1110Ser missense
... more HGVS
Protein change
A1110S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA183429
dbSNP: rs727504587
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 11, 2013 RCV000155760.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOXHD1 - - GRCh38
GRCh37
514 554

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 11, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000205471.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Ala1110Ser vari ant in LOXHD1 has not been reported in individuals with hearing loss or in ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019