chr2:241656229:C>T Detail (hg19) (KIF1A)

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

Genome

Assembly	Position
hg19	chr2:241,656,229-241,656,229
hg38	chr2:240,716,812-240,716,812 View the variant detail on this assembly version.

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.*552G>A
	NM_001244008.1:c.*552G>A
	NM_001320705.1:c.*552G>A
Ensemble	ENST00000320389.12:c.*552G>A
	ENST00000431776.7:c.*552G>A
	ENST00000498729.9:c.*552G>A
	ENST00000647572.2:c.*552G>A
	ENST00000647731.1:c.*552G>A
	ENST00000648047.2:c.*552G>A
	ENST00000648364.1:c.*552G>A
	ENST00000648680.1:c.*552G>A
	ENST00000649096.1:c.*552G>A
	ENST00000674907.2:c.*552G>A
	ENST00000675126.2:c.*552G>A
	ENST00000675940.2:c.*552G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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	2018-01-12	criteria provided, single submitter	hereditary spastic paraplegia 30	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001244008.2(KIF1A):c.*552G>A AND Hereditary spastic paraplegia 30	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: rs866854968 dbSNP
Genome: hg19
Position: chr2:241,656,229-241,656,229
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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