chr2:240747247:G>A Detail (hg38) (KIF1A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr2:241,686,664-241,686,664 View the variant detail on this assembly version.
hg38	chr2:240,747,247-240,747,247

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.2749C>T	NP_004312.2:p.His917Tyr
	NM_001244008.1:c.3052C>T	NP_001230937.1:p.His1018Tyr
	NM_001320705.1:c.3052C>T	NP_001307634.1:p.His1018Tyr
Ensemble	ENST00000320389.12:c.2749C>T	ENST00000320389.12:p.His917Tyr
	ENST00000404283.9:c.3052C>T	ENST00000404283.9:p.His1018Tyr
	ENST00000431776.7:c.2776C>T	ENST00000431776.7:p.His926Tyr
	ENST00000498729.9:c.3052C>T	ENST00000498729.9:p.His1018Tyr
	ENST00000647572.2:c.3052C>T	ENST00000647572.2:p.His1018Tyr
	ENST00000647731.1:c.2749C>T	ENST00000647731.1:p.His917Tyr
	ENST00000647885.1:c.2749C>T	ENST00000647885.1:p.His917Tyr
	ENST00000648047.2:c.2851C>T	ENST00000648047.2:p.His951Tyr
	ENST00000648129.1:c.3025C>T	ENST00000648129.1:p.His1009Tyr
	ENST00000648364.1:c.2776C>T	ENST00000648364.1:p.His926Tyr
	ENST00000648680.1:c.2776C>T	ENST00000648680.1:p.His926Tyr
	ENST00000649096.1:c.2749C>T	ENST00000649096.1:p.His917Tyr
	ENST00000649306.1:c.2851C>T	ENST00000649306.1:p.His951Tyr
	ENST00000650053.1:c.2749C>T	ENST00000650053.1:p.His917Tyr
	ENST00000650130.1:c.3025C>T	ENST00000650130.1:p.His1009Tyr
	ENST00000674907.2:c.3052C>T	ENST00000674907.2:p.His1018Tyr
	ENST00000675126.2:c.3025C>T	ENST00000675126.2:p.His1009Tyr
	ENST00000675940.2:c.3052C>T	ENST00000675940.2:p.His1018Tyr
	ENST00000715177.1:c.3025C>T	ENST00000715177.1:p.His1009Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

KIF1A

Type	Database	ID	Link
Gene	MIM	601255	OMIM
	HGNC	888	HGNC
	Ensembl	ENSG00000130294	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		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance		criteria provided, single submitter	cleft palate,Sensorineural hearing loss disorder,Dandy-Walker syndrome,Congenital laryngomalacia,night blindness,Global developmental delay,Duane retraction syndrome,diaphragmatic eventration	germline	Detail
Uncertain significance	2021-01-06	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Uncertain significance	2022-11-12	criteria provided, single submitter	Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30	germline	Detail
Uncertain significance	2022-11-12	criteria provided, single submitter	Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30	germline	Detail
Uncertain significance	2022-11-12	criteria provided, single submitter	Intellectual disability, autosomal dominant 9,Neuropathy, hereditary sensory, type 2C,hereditary spastic paraplegia 30	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND Inborn genetic diseases	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) 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: rs1356639316 dbSNP
Genome: hg38
Position: chr2:240,747,247-240,747,247
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser