chr6:131897806:C>T Detail (hg19) (ARG1, MED23)

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

Information

Genome

Assembly	Position
hg19	chr6:131,897,806-131,897,806
hg38	chr6:131,576,666-131,576,666 View the variant detail on this assembly version.

HGVS

ARG1
MED23

Type	Transcript	Protein
RefSeq	NM_001244438.1:c.61C>T	NP_001231367.1:p.Arg21Ter
	NM_000045.3:c.61C>T	NP_000036.2:p.Arg21Ter
Ensemble	ENST00000356962.2:c.61C>T	ENST00000356962.2:p.Arg21Ter
	ENST00000368087.8:c.61C>T	ENST00000368087.8:p.Arg21Ter
	ENST00000672233.1:c.77-2445C>T
	ENST00000673427.1:c.61C>T	ENST00000673427.1:p.Arg21Ter

Type	Transcript	Protein
RefSeq	NM_001270521.1:c.4096-2371G>A
	NM_015979.3:c.4096-2371G>A
Ensemble	ENST00000354577.8:c.4096-2371G>A

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

ARG1
MED23

Type	Database	ID	Link
Gene	MIM	608313	OMIM
	HGNC	663	HGNC
	Ensembl	ENSG00000118520	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	605042	OMIM
	HGNC	2372	HGNC
	Ensembl	ENSG00000112282	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-02	criteria provided, multiple submitters, no conflicts	Arginase deficiency	germline unknown	Detail
Pathogenic	2022-03-02	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.563	hyperargininemia	Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) i...	BeFree	10502833	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) AND Arginase deficiency	ClinVar	Detail
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) AND not provided	ClinVar	Detail
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) AND Inborn genetic diseases	ClinVar	Detail
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese pa...	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: rs104893944 dbSNP
Genome: hg19
Position: chr6:131,897,806-131,897,806
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8634
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): 121270
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.1230312525768946E-5

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