chrX:108598793:G>A Detail (hg38) (COL4A5)

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

Genome

Assembly	Position
hg19	chrX:107,842,023-107,842,023 View the variant detail on this assembly version.
hg38	chrX:108,598,793-108,598,793

HGVS

COL4A5

Type	Transcript	Protein
RefSeq	NM_033380.2:c.1871G>A	NP_203699.1:p.Gly624Asp
	NM_000495.4:c.1871G>A	NP_000486.1:p.Gly624Asp
Ensemble	ENST00000328300.11:c.1871G>A	ENST00000328300.11:p.Gly624Asp
	ENST00000361603.7:c.1871G>A	ENST00000361603.7:p.Gly624Asp
	ENST00000483338.1:c.695G>A	ENST00000483338.1:p.Gly232Asp

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

COL4A5

Type	Database	ID	Link
Gene	MIM	303630	OMIM
	HGNC	2207	HGNC
	Ensembl	ENSG00000188153	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6883007	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	X-linked Alport syndrome	germline inherited unknown	Detail
Pathogenic	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2015-04-13	criteria provided, single submitter	Hypertensive disorder	unknown	Detail
Pathogenic	2015-01-31	no assertion criteria provided	Alport syndrome	unknown	Detail
Pathogenic	2024-01-19	criteria provided, single submitter	COL4A5-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.575	Alport Syndrome, X-Linked	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND X-linked Alport syndrome	ClinVar	Detail
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND not provided	ClinVar	Detail
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND multiple conditions	ClinVar	Detail
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND Alport syndrome	ClinVar	Detail
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND COL4A5-related disorder	ClinVar	Detail
NA	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: rs104886142 dbSNP
Genome: hg38
Position: chrX:108,598,793-108,598,793
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6616
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): 87582
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.992509876458633E-5
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 4

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