chrX:2864133:G>A Detail (hg19) (ARSL)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:2,864,133-2,864,133
hg38	chrX:2,946,092-2,946,092 View the variant detail on this assembly version.

HGVS

ARSL

Type	Transcript	Protein
RefSeq	NM_000047.2:c.897C>T	NP_000038.2:p.His299=
	NM_001282631.1:c.897C>T	NP_001269560.1:p.His299=
	NM_001282628.1:c.972C>T	NP_001269557.1:p.His324=
Ensemble	ENST00000381134.9:c.897C>T	ENST00000381134.9:p.His299=
	ENST00000540563.6:c.897C>T	ENST00000540563.6:p.His299=
	ENST00000545496.6:c.972C>T	ENST00000545496.6:p.His324=
	ENST00000672027.1:c.972C>T	ENST00000672027.1:p.His324=
	ENST00000672097.1:c.897C>T	ENST00000672097.1:p.His299=
	ENST00000672761.1:c.735C>T	ENST00000672761.1:p.His245=
	ENST00000673032.1:c.735C>T	ENST00000673032.1:p.His245=
	ENST00000681963.1:c.972C>T	ENST00000681963.1:p.His324=
	ENST00000682184.1:c.774C>T	ENST00000682184.1:p.His258=
	ENST00000682364.1:c.431-2893C>T
	ENST00000683290.1:c.972C>T	ENST00000683290.1:p.His324=
	ENST00000683677.1:c.885C>T	ENST00000683677.1:p.His295=
	ENST00000683958.1:c.897C>T	ENST00000683958.1:p.His299=
	ENST00000684077.1:c.735C>T	ENST00000684077.1:p.His245=
	ENST00000684117.1:c.735C>T	ENST00000684117.1:p.His245=
	ENST00000684364.1:c.885C>T	ENST00000684364.1:p.His295=
	ENST00000684738.1:c.431-2893C>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
Review star
Show details

Links

ARSL

Type	Database	ID	Link
Gene	MIM	300180	OMIM
	HGNC	719	HGNC
	Ensembl	ENSG00000157399	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6843190	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2019-02-24	criteria provided, single submitter	X-linked chondrodysplasia punctata 1	germline	Detail
Benign	2024-01-11	criteria provided, single submitter	Chondrodysplasia punctata, brachytelephalangic, autosomal	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000047.3(ARSL):c.897C>T (p.His299=) AND X-linked chondrodysplasia punctata 1	ClinVar	Detail
NM_000047.3(ARSL):c.897C>T (p.His299=) AND Chondrodysplasia punctata, brachytelephalangic, autosomal	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: rs148471739 dbSNP
Genome: hg19
Position: chrX:2,864,133-2,864,133
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6624
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): 87628
Allele Counts in All Race (ExAC): 22
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.5106130460583373E-4
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 6

Genome browser