chr3:49137655:G>A Detail (hg19) (QARS1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:49,137,655-49,137,655
hg38	chr3:49,100,222-49,100,222 View the variant detail on this assembly version.

HGVS

QARS1

Type	Transcript	Protein
RefSeq	NM_005051.2:c.1132C>T	NP_005042.1:p.Arg378Cys
	NR_073590.1:c.1132C>T
	NM_001272073.1:c.1099C>T	NP_001259002.1:p.Arg367Cys
Ensemble	ENST00000306125.12:c.1132C>T	ENST00000306125.12:p.Arg378Cys
	ENST00000414533.5:c.1099C>T	ENST00000414533.5:p.Arg367Cys
	ENST00000464962.6:c.697C>T	ENST00000464962.6:p.Arg233Cys

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	Conflicting classifications of pathogenicity
Review star
Show details

Links

QARS1

Type	Database	ID	Link
Gene	MIM	603727	OMIM
	HGNC	9751	HGNC
	Ensembl	ENSG00000172053	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6760898	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic		criteria provided, single submitter	microcephaly,Insomnia	germline	Detail
Likely pathogenic		criteria provided, single submitter	microcephaly,Insomnia	germline	Detail
Conflicting interpretations of pathogenicity	2022-10-28	criteria provided, conflicting interpretations	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	germline maternal	Detail
Likely pathogenic	2022-03-10	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-12-21	criteria provided, single submitter		inherited	Detail
Likely pathogenic	2023-02-18	criteria provided, single submitter	QARS1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND multiple conditions	ClinVar	Detail
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND multiple conditions	ClinVar	Detail
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND Diffuse cerebral and cerebellar atrophy - intractable...	ClinVar	Detail
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND not provided	ClinVar	Detail
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND See cases	ClinVar	Detail
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) AND QARS1-related disorder	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: rs185476065 dbSNP
Genome: hg19
Position: chr3:49,137,655-49,137,655
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 9
East Asian Heterozygous Counts (ExAC): 9
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0010399815114397967
Chromosome Counts in All Race (ExAC): 121338
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.88972951589774E-5

Genome browser