chr3:45516118:C>T Detail (hg38) (LARS2)

Information

Genome

Assembly Position
hg19 chr3:45,557,610-45,557,610 View the variant detail on this assembly version.
hg38 chr3:45,516,118-45,516,118

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000414984.5:c.1757C>T ENST00000414984.5:p.Thr586Met
ENST00000642274.1:c.1886C>T ENST00000642274.1:p.Thr629Met
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 604544 OMIM
HGNC 17095 HGNC
Ensembl ENSG00000011376 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv191678394 TogoVar
COSMIC COSM3696102 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-04-04 no assertion criteria provided Perrault syndrome 4 germline Detail
Pathogenic 2021-07-15 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
not provided no assertion provided Perrault syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Perrault syndrome 4 Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to prema... UNIPROT 23541342 Detail
0.240 Perrault syndrome 4 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) AND Perrault syndrome 4 ClinVar Detail
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) AND Perrault syndrome ClinVar Detail
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure... DisGeNET 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
rs398123036 dbSNP
Genome
hg38
Position
chr3:45,516,118-45,516,118
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8616
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)
120918
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.270067318347971E-5
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