chr9:128523676:A>G Detail (hg38) (GLE1)

Information

Genome

Assembly Position
hg19 chr9:131,285,955-131,285,955 View the variant detail on this assembly version.
hg38 chr9:128,523,676-128,523,676

HGVS

Type Transcript Protein
RefSeq NM_001003722.1:c.727A>G NP_001003722.1:p.Ile243Val
NM_001499.2:c.727A>G NP_001490.1:p.Ile243Val
Ensemble ENST00000309971.9:c.727A>G ENST00000309971.9:p.Ile243Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.503
ToMMo:0.523
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.442

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603371 OMIM
HGNC 4315 HGNC
Ensembl ENSG00000119392 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37705621 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-02-05 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-07-10 criteria provided, multiple submitters, no conflicts lethal congenital contracture syndrome 1 germline Detail
Benign 2021-07-10 criteria provided, multiple submitters, no conflicts Lethal arthrogryposis-anterior horn cell disease syndrome germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-11-20 no assertion criteria provided Lethal congenital contractural syndrome Finnish type germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND not specified ClinVar Detail
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND Lethal congenital contracture syndrome 1 ClinVar Detail
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND Lethal arthrogryposis-anterior horn cell disease syn... ClinVar Detail
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND not provided ClinVar Detail
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND Lethal congenital contractural syndrome Finnish type 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
rs2275260 dbSNP
Genome
hg38
Position
chr9:128,523,676-128,523,676
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1165
Mean of sample read depth (HGVD)
43.92
Standard deviation of sample read depth (HGVD)
23.86
Number of reference allele (HGVD)
1158
Number of alternative allele (HGVD)
1172
Allele Frequency (HGVD)
0.5030042918454936
Gene Symbol (HGVD)
GLE1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2275260
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5227
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8761
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
3807
East Asian Heterozygous Counts (ExAC)
2195
East Asian Homozygous Counts (ExAC)
806
East Asian Allele Frequency (ExAC)
0.4419549570466682
Chromosome Counts in All Race (ExAC)
120626
Allele Counts in All Race (ExAC)
32312
Heterozygous Counts in All Race (ExAC)
22810
Homozygous Counts in All Race (ExAC)
4751
Allele Frequency in All Race (ExAC)
0.26786928191268883
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