NF2 LOSS Detail (hg19) (NF2)

Information

Genome

Assembly Position
hg19 chr22:29,999,547-30,094,587
hg38 chr22:29,603,558-29,698,598 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607379 OMIM
HGNC 7773 HGNC
Ensembl ENSG00000186575 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
thyroid gland carcinoma Selumetinib D Predictive Supports Sensitivity/Response Somatic 4 26359368 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to... CIViC Evidence 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
NF2
Genome
hg19
Position
chr22:29,999,547-30,094,587
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
LOSS
Transcript 1 (CIViC Variant)
ENST00000338641.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/697
Genome browser