chr11:72095690:T> Detail (hg38) (LAMTOR1, LRTOMT, LRRC51)

Information

Genome

Assembly Position
hg19 chr11:71,806,736-71,806,736 
hg38 chr11:72,095,690-72,095,690

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000535107.5:c.267-913delA
ENST00000545249.5:c.393+2599delA
Type Transcript Protein
RefSeq NM_001271471.2:c.*170delT
NM_001318803.1:c.*170delT
NM_145309.5:c.*170delT
Type Transcript Protein
RefSeq NM_001145308.4:c.34+594delT
NM_001145309.3:c.34+594delT
Ensemble ENST00000307198.11:c.34+594delT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.166
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.366

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613510 OMIM
HGNC 26068 HGNC
Ensembl ENSG00000149357 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43130330 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 55526 HGNC
Ensembl ENSG00000184154 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43130330 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 612414 OMIM
HGNC 25033 HGNC
Ensembl ENSG00000284922 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43130330 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-02-06 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_145309.6(LRRC51):c.*170del AND not provided 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
rs200241625 dbSNP
Genome
hg38
Position
chr11:72,095,690-72,095,690
Variant Type
snv
Reference Allele
T
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1657
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2777
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
82
East Asian Allele Counts (ExAC)
30
East Asian Heterozygous Counts (ExAC)
27
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.36585365853658536
Chromosome Counts in All Race (ExAC)
2528
Allele Counts in All Race (ExAC)
736
Heterozygous Counts in All Race (ExAC)
704
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.2911392405063291
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