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NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp) AND Lissencephaly due to TUBA1A mutation

Germline classification:
Uncertain significance (1 submission)
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:
RCV000722177.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)]

NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)

Gene:
TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)
HGVS:
  • NC_000012.12:g.49185119C>T
  • NG_008966.1:g.8960G>A
  • NM_001270399.2:c.1247G>A
  • NM_001270400.2:c.1142G>A
  • NM_006009.4:c.1247G>AMANE SELECT
  • NP_001257328.1:p.Gly416Asp
  • NP_001257329.1:p.Gly381Asp
  • NP_006000.2:p.Gly416Asp
  • NC_000012.11:g.49578902C>T
  • NM_006009.3:c.1247G>A
Protein change:
G381D
Links:
dbSNP: rs1565626906
NCBI 1000 Genomes Browser:
rs1565626906
Molecular consequence:
  • NM_001270399.2:c.1247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.1247G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lissencephaly due to TUBA1A mutation (LIS3)
Synonyms:
Lissencephaly 3
Identifiers:
MONDO: MONDO:0012703; MedGen: C4305153; Orphanet: 171680; OMIM: 611603

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000853265Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000853265.1

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

Last Updated: Dec 2, 2023