chr1:36937711:G>A Detail (hg19) (CSF3R)

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

Genome

Assembly	Position
hg19	chr1:36,937,711-36,937,711
hg38	chr1:36,472,110-36,472,110 View the variant detail on this assembly version.

HGVS

CSF3R

Type	Transcript	Protein
RefSeq	NM_156039.3:c.1027C>T	NP_724781.1:p.Arg343Trp
	NM_000760.3:c.1027C>T	NP_000751.1:p.Arg343Trp
	NM_172313.2:c.1027C>T	NP_758519.1:p.Arg343Trp
Ensemble	ENST00000373103.5:c.1027C>T	ENST00000373103.5:p.Arg343Trp
	ENST00000373106.6:c.1027C>T	ENST00000373106.6:p.Arg343Trp
	ENST00000464465.7:c.1027C>T	ENST00000464465.7:p.Arg343Trp
	ENST00000699090.1:c.631C>T	ENST00000699090.1:p.Arg211Trp
	ENST00000373104.5:c.1027C>T	ENST00000373104.5:p.Arg343Trp

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

CSF3R

Type	Database	ID	Link
Gene	MIM	138971	OMIM
	HGNC	2439	HGNC
	Ensembl	ENSG00000119535	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	2023-10-28	criteria provided, single submitter	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	germline	Detail
Uncertain significance	2022-11-25	no assertion criteria provided	not specified	germline	Detail
Uncertain significance	2023-06-05	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) AND Autosomal recessive severe congenital neutropenia due...	ClinVar	Detail
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) AND not specified	ClinVar	Detail
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) 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: rs752325760 dbSNP
Genome: hg19
Position: chr1:36,937,711-36,937,711
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8636
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): 120496
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4897092019652104E-5

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