chr22:20982398:G> Detail (hg38) (LZTR1, LOC130067016)

Information

Genome

Assembly Position
hg19 chr22:21,336,687-21,336,687 
hg38 chr22:20,982,398-20,982,398

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000646124.2:c.27delG ENST00000646124.2:p.Gln10ArgfsTer15
ENST00000700578.1:c.27delG ENST00000700578.1:p.Gln10ArgfsTer15
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance 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 tgv65421650 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts schwannomatosis 2 germline unknown Detail
Pathogenic 2023-12-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-02-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-02-14 criteria provided, multiple submitters, no conflicts Noonan syndrome 10 germline Detail
Pathogenic criteria provided, single submitter Noonan syndrome 2 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.27del (p.Gln10fs) AND Schwannomatosis 2 ClinVar Detail
NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND not provided ClinVar Detail
NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND multiple conditions ClinVar Detail
NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND Noonan syndrome 10 ClinVar Detail
NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND Noonan syndrome 2 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
rs587777613 dbSNP
Genome
hg38
Position
chr22:20,982,398-20,982,398
Variant Type
snv
Reference Allele
G
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
548
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
15734
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.355662895640016E-5
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