chr16:3589057:C>T Detail (hg38) (SLX4)

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

Genome

Assembly	Position
hg19	chr16:3,639,058-3,639,058 View the variant detail on this assembly version.
hg38	chr16:3,589,057-3,589,057

HGVS

SLX4

Type	Transcript	Protein
RefSeq	NM_032444.2:c.4581G>A	NP_115820.2:p.Pro1527=
Ensemble	ENST00000294008.4:c.4581G>A	ENST00000294008.4:p.Pro1527=

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	Benign
Review star
Show details

Links

SLX4

Type	Database	ID	Link
Gene	MIM	613278	OMIM
	HGNC	23845	HGNC
	Ensembl	ENSG00000188827	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv227163784	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2017-01-13	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2024-02-01	criteria provided, single submitter	Fanconi anemia	germline	Detail
Benign	2023-07-07	criteria provided, multiple submitters, no conflicts	Fanconi anemia complementation group P	germline	Detail
Benign	2019-04-16	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND not specified	ClinVar	Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND Fanconi anemia	ClinVar	Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND Fanconi anemia complementation group P	ClinVar	Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND not provided	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: rs78635099 dbSNP
Genome: hg38
Position: chr16:3,589,057-3,589,057
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8580
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): 120492
Allele Counts in All Race (ExAC): 1076
Heterozygous Counts in All Race (ExAC): 1004
Homozygous Counts in All Race (ExAC): 36
Allele Frequency in All Race (ExAC): 0.008930053447531786

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