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NM_006767.4(LZTR1):c.543G>A (p.Thr181=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 16, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000615095.4

Allele description [Variation Report for NM_006767.4(LZTR1):c.543G>A (p.Thr181=)]

NM_006767.4(LZTR1):c.543G>A (p.Thr181=)

Gene:
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006767.4(LZTR1):c.543G>A (p.Thr181=)
HGVS:
  • NC_000022.11:g.20988822G>A
  • NG_034193.1:g.11554G>A
  • NM_006767.4:c.543G>AMANE SELECT
  • NP_006758.2:p.Thr181=
  • LRG_989t1:c.543G>A
  • LRG_989:g.11554G>A
  • LRG_989p1:p.Thr181=
  • NC_000022.10:g.21343111G>A
  • NM_006767.3:c.543G>A
Links:
dbSNP: rs151294009
NCBI 1000 Genomes Browser:
rs151294009
Molecular consequence:
  • NM_006767.4:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001363701Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Nov 16, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363701.1

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

Last Updated: Sep 29, 2024