chr7:65551738:G>A Detail (hg19) (ASL)

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

Genome

Assembly	Position
hg19	chr7:65,551,738-65,551,738
hg38	chr7:66,086,751-66,086,751 View the variant detail on this assembly version.

HGVS

ASL

Type	Transcript	Protein
RefSeq	NM_000048.3:c.532G>A	NP_000039.2:p.Val178Met
	NM_001024946.1:c.524+89G>A
	NM_001024944.1:c.532G>A	NP_001020115.1:p.Val178Met
	NM_001024943.1:c.532G>A	NP_001020114.1:p.Val178Met
Ensemble	ENST00000304874.14:c.532G>A	ENST00000304874.14:p.Val178Met
	ENST00000380839.9:c.524+89G>A
	ENST00000395331.4:c.532G>A	ENST00000395331.4:p.Val178Met
	ENST00000395332.8:c.532G>A	ENST00000395332.8:p.Val178Met
	ENST00000673518.1:c.524+89G>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
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Links

ASL

Type	Database	ID	Link
Gene	MIM	608310	OMIM
	HGNC	746	HGNC
	Ensembl	ENSG00000126522	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	2024-01-29	criteria provided, multiple submitters, no conflicts	Argininosuccinate lyase deficiency	germline unknown	Detail
Pathogenic	2023-02-12	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.563	argininosuccinic aciduria	NA	CLINVAR		Detail
0.563	argininosuccinic aciduria	Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and ...	UNIPROT	17326097	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000048.4(ASL):c.532G>A (p.Val178Met) AND Argininosuccinate lyase deficiency	ClinVar	Detail
NM_000048.4(ASL):c.532G>A (p.Val178Met) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a ...	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: rs28941473 dbSNP
Genome: hg19
Position: chr7:65,551,738-65,551,738
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 4870
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): 68898
Allele Counts in All Race (ExAC): 35
Heterozygous Counts in All Race (ExAC): 35
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.079973293854684E-4

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