chr1:10363509:C>T Detail (hg19) (KIF1B)

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

Genome

Assembly	Position
hg19	chr1:10,363,509-10,363,509
hg38	chr1:10,303,451-10,303,451 View the variant detail on this assembly version.

HGVS

KIF1B

Type	Transcript	Protein
RefSeq	NM_015074.3:c.1977+6205C>T
	NM_183416.3:c.2266C>T	NP_904325.2:p.Arg756Trp
Ensemble	ENST00000676179.1:c.2115+6205C>T
	ENST00000377081.5:c.2115+6205C>T
	ENST00000696502.1:c.1977+6205C>T
	ENST00000377086.5:c.2115+6205C>T
	ENST00000620295.2:c.2073+6205C>T
	ENST00000377083.5:c.2266C>T	ENST00000377083.5:p.Arg756Trp
	ENST00000696504.1:c.2040+6205C>T
	ENST00000263934.10:c.1977+6205C>T
	ENST00000622724.3:c.2037+6205C>T
	ENST00000377093.9:c.2266C>T	ENST00000377093.9:p.Arg756Trp
	ENST00000696503.1:c.2040+6205C>T

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

KIF1B

Type	Database	ID	Link
Gene	MIM	605995	OMIM
	HGNC	16636	HGNC
	Ensembl	ENSG00000054523	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv329357	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2016-01-26	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2014-03-24	criteria provided, single submitter	Hemihypertrophy	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001365951.3(KIF1B):c.2115+6205C>T AND not provided	ClinVar	Detail
NM_001365951.3(KIF1B):c.2115+6205C>T AND multiple conditions	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: rs771399291 dbSNP
Genome: hg19
Position: chr1:10,363,509-10,363,509
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8632
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): 120872
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): 1.6546429280561253E-5

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