U.S. flag

An official website of the United States government

NM_178014.4(TUBB):c.647A>G (p.Lys216Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 27, 2017
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:
RCV000656301.1

Allele description [Variation Report for NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)]

NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)
HGVS:
  • NC_000006.12:g.30723709A>G
  • NG_034142.1:g.8509A>G
  • NM_001293212.2:c.707A>G
  • NM_001293213.2:c.369+278A>G
  • NM_001293214.2:c.515A>G
  • NM_001293215.2:c.431A>G
  • NM_001293216.2:c.431A>G
  • NM_178014.4:c.647A>GMANE SELECT
  • NP_001280141.1:p.Lys236Arg
  • NP_001280143.1:p.Lys172Arg
  • NP_001280144.1:p.Lys144Arg
  • NP_001280145.1:p.Lys144Arg
  • NP_821133.1:p.Lys216Arg
  • NC_000006.11:g.30691486A>G
  • NM_001293212.1:c.707A>G
Protein change:
K144R
Links:
dbSNP: rs1059145
NCBI 1000 Genomes Browser:
rs1059145
Molecular consequence:
  • NM_001293213.2:c.369+278A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293212.2:c.707A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293214.2:c.515A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293215.2:c.431A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293216.2:c.431A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178014.4:c.647A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778271Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
no assertion criteria provided
Likely pathogenic
(Jun 27, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV000778271.1

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

Last Updated: Apr 23, 2022