chr11:126147577:T>A Detail (hg19) (FOXRED1)

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

Genome

Assembly	Position
hg19	chr11:126,147,577-126,147,577
hg38	chr11:126,277,682-126,277,682 View the variant detail on this assembly version.

HGVS

FOXRED1

Type	Transcript	Protein
RefSeq	NM_017547.3:c.1454T>A	NP_060017.1:p.Ile485Asn
	NR_037648.1:c.1451T>A
Ensemble	ENST00000692336.1:c.1478T>A	ENST00000692336.1:p.Ile493Asn
	ENST00000685484.1:c.*450T>A
	ENST00000688588.1:c.*274T>A
	ENST00000263578.10:c.1454T>A	ENST00000263578.10:p.Ile485Asn
	ENST00000533839.6:c.806T>A	ENST00000533839.6:p.Ile269Asn
	ENST00000532125.2:c.1451T>A	ENST00000532125.2:p.Ile484Asn

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

FOXRED1

Type	Database	ID	Link
Gene	MIM	613622	OMIM
	HGNC	26927	HGNC
	Ensembl	ENSG00000110074	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	2022-08-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2017-08-09	criteria provided, single submitter	Developmental delay	germline	Detail
Uncertain significance	2018-11-26	criteria provided, single submitter	Leigh syndrome	maternal	Detail
Uncertain significance	2021-10-29	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) AND not provided	ClinVar	Detail
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) AND Developmental delay	ClinVar	Detail
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) AND Leigh syndrome	ClinVar	Detail
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) AND Inborn genetic diseases	ClinVar	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: rs770063137 dbSNP
Genome: hg19
Position: chr11:126,147,577-126,147,577
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8586
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): 119138
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6787255115915996E-5

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