chr2:227294985:C>T Detail (hg38) (COL4A3, MFF-DT)

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

Information

Genome

Assembly	Position
hg19	chr2:228,159,701-228,159,701 View the variant detail on this assembly version.
hg38	chr2:227,294,985-227,294,985

HGVS

COL4A3

Type	Transcript	Protein
RefSeq	NM_000091.4:c.3440C>T	NP_000082.2:p.Ser1147Phe
Ensemble	ENST00000396578.8:c.3440C>T	ENST00000396578.8:p.Ser1147Phe

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	Uncertain significance
Review star
Show details

Links

COL4A3

Type	Database	ID	Link
Gene	MIM	120070	OMIM
	HGNC	2204	HGNC
	Ensembl	ENSG00000169031	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
Uncertain significance	2021-04-12	criteria provided, single submitter	Stickler syndrome	germline	Detail
Uncertain significance	2022-10-17	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2017-10-12	criteria provided, single submitter	COL4A3-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	Alport syndrome	The application of this technology allowed us to identify the second mutation in...	BeFree	21897443	Detail
0.012	Alport syndrome	The application of this technology allowed us to identify the second mutation in...	BeFree	21897443	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) AND Stickler syndrome	ClinVar	Detail
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) AND not provided	ClinVar	Detail
NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) AND COL4A3-related disorder	ClinVar	Detail
The application of this technology allowed us to identify the second mutation in two ATS patients (p...	DisGeNET	Detail
The application of this technology allowed us to identify the second mutation in two ATS patients (p...	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: rs200107989 dbSNP
Genome: hg38
Position: chr2:227,294,985-227,294,985
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8566
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): 120156
Allele Counts in All Race (ExAC): 26
Heterozygous Counts in All Race (ExAC): 26
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.1638536569126802E-4

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