chr16:90001721:G>A Detail (hg19) (TUBB3)

Information

Genome

Assembly Position
hg19 chr16:90,001,721-90,001,721
hg38 chr16:89,935,313-89,935,313 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001197181.1:c.646G>A NP_001184110.1:p.Glu216Lys
NM_006086.3:c.862G>A NP_006077.2:p.Glu288Lys
Ensemble ENST00000554444.5:c.646G>A ENST00000554444.5:p.Glu216Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602661 OMIM
HGNC 20772 HGNC
Ensembl ENSG00000258947 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5929697 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-10-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2022-12-08 criteria provided, multiple submitters, no conflicts complex cortical dysplasia with other brain malformations 1 de novo germline Detail
Pathogenic no assertion criteria provided de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) AND not provided ClinVar Detail
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) AND Complex cortical dysplasia with other brain malformati... ClinVar Detail
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) AND Abnormal cerebral morphology ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1057521924 dbSNP
Genome
hg19
Position
chr16:90,001,721-90,001,721
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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