chr6:131894480:G>A Detail (hg19) (ARG1)

Information

Genome

Assembly Position
hg19 chr6:131,894,480-131,894,480
hg38 chr6:131,573,340-131,573,340 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001244438.1:c.57+1G>A
NM_000045.3:c.57+1G>A
Ensemble ENST00000356962.2:c.57+1G>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 Likely pathogenic
Review star
Show details
Links
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts Arginase deficiency germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.563 hyperargininemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000045.4(ARG1):c.57+1G>A AND Arginase deficiency ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776539 dbSNP
Genome
hg19
Position
chr6:131,894,480-131,894,480
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8596
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)
120464
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.301235223801302E-6
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