chr22:20996908:CGCA> Detail (hg38) (LZTR1)

Information

Genome

Assembly Position
hg19 chr22:21,351,197-21,351,200 
hg38 chr22:20,996,908-20,996,911

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000646124.2:c.2348_2351delCGCA ENST00000646124.2:p.Thr783ArgfsTer5
ENST00000700578.1:c.2325+107_2325+110delCGCA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600574 OMIM
HGNC 6742 HGNC
Ensembl ENSG00000099949 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-02-01 no assertion criteria provided schwannomatosis 2 unknown Detail
Likely pathogenic 2023-11-18 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2021-12-28 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 schwannomatosis 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) AND Schwannomatosis 2 ClinVar Detail
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) AND not provided ClinVar Detail
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs587777179 dbSNP
Genome
hg38
Position
chr22:20,996,908-20,996,911
Variant Type
snv
Reference Allele
CGCA
Alternative Allele
-
Genome browser