chr2:74532698:G>A Detail (hg38) (HTRA2, LOXL3)

Information

Genome

Assembly Position
hg19 chr2:74,759,825-74,759,825 View the variant detail on this assembly version.
hg38 chr2:74,532,698-74,532,698

HGVS

Type Transcript Protein
RefSeq NM_013247.4:c.1195G>A NP_037379.1:p.Gly399Ser
NR_135769.1:c.1195G>A
NR_135770.1:c.1195G>A
Type Transcript Protein
RefSeq NM_001289165.1:c.*908C>T
NM_032603.3:c.*908C>T
Ensemble ENST00000264094.8:c.*908C>T
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606441 OMIM
HGNC 14348 HGNC
Ensembl ENSG00000115317 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv309029995 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 607163 OMIM
HGNC 13869 HGNC
Ensembl ENSG00000115318 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv309029995 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-27 criteria provided, multiple submitters, no conflicts Parkinson disease 13, autosomal dominant, susceptibility to germline Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Parkinson disease 13, autosomal dominant, susceptibility to Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease... UNIPROT 15961413 Detail
<0.001 essential tremor Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor a... BeFree 25422467 Detail
0.019 Parkinson disease Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor a... BeFree 25422467 Detail
<0.001 Familial Tremor Our results suggest that in some families, HTRA2 p.G399S is responsible for here... BeFree 25422467 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) AND Parkinson disease 13, autosomal dominant, susceptibil... ClinVar Detail
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) AND not provided ClinVar Detail
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. DisGeNET Detail
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease... DisGeNET Detail
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease... DisGeNET Detail
Our results suggest that in some families, HTRA2 p.G399S is responsible for hereditary essential tre... 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
rs72470545 dbSNP
Genome
hg38
Position
chr2:74,532,698-74,532,698
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121376
Allele Counts in All Race (ExAC)
531
Heterozygous Counts in All Race (ExAC)
523
Homozygous Counts in All Race (ExAC)
4
Allele Frequency in All Race (ExAC)
0.004374835222778803
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