chr3:45513188:G>A Detail (hg38) (LARS2)

Information

Genome

Assembly Position
hg19 chr3:45,554,680-45,554,680 View the variant detail on this assembly version.
hg38 chr3:45,513,188-45,513,188

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000414984.5:c.1685G>A ENST00000414984.5:p.Arg562His
ENST00000642274.1:c.1814G>A ENST00000642274.1:p.Arg605His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 604544 OMIM
HGNC 17095 HGNC
Ensembl ENSG00000011376 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12280861 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-08-24 criteria provided, single submitter not specified germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Perrault syndrome 4 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Perrault syndrome 4 unknown Detail
Uncertain significance 2022-08-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) AND not specified ClinVar Detail
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) AND multiple conditions ClinVar Detail
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) AND multiple conditions ClinVar Detail
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) 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
rs142665087 dbSNP
Genome
hg38
Position
chr3:45,513,188-45,513,188
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
81.31
Standard deviation of sample read depth (HGVD)
40.96
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
LARS2
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))
rs142665087
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
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)
121404
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.471088267272907E-5
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