chr2:240785066:T>G Detail (hg38) (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	chr2:241,724,483-241,724,483 View the variant detail on this assembly version.
hg38	chr2:240,785,066-240,785,066

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.643A>C	NP_004312.2:p.Ser215Arg
	NM_001244008.1:c.643A>C	NP_001230937.1:p.Ser215Arg
	NM_001320705.1:c.643A>C	NP_001307634.1:p.Ser215Arg
Ensemble	ENST00000320389.12:c.643A>C	ENST00000320389.12:p.Ser215Arg
	ENST00000404283.9:c.643A>C	ENST00000404283.9:p.Ser215Arg
	ENST00000431776.7:c.643A>C	ENST00000431776.7:p.Ser215Arg
	ENST00000498729.9:c.643A>C	ENST00000498729.9:p.Ser215Arg
	ENST00000647572.2:c.643A>C	ENST00000647572.2:p.Ser215Arg
	ENST00000647731.1:c.643A>C	ENST00000647731.1:p.Ser215Arg
	ENST00000647885.1:c.643A>C	ENST00000647885.1:p.Ser215Arg
	ENST00000648047.2:c.643A>C	ENST00000648047.2:p.Ser215Arg
	ENST00000648129.1:c.643A>C	ENST00000648129.1:p.Ser215Arg
	ENST00000648364.1:c.643A>C	ENST00000648364.1:p.Ser215Arg
	ENST00000648680.1:c.643A>C	ENST00000648680.1:p.Ser215Arg
	ENST00000649096.1:c.643A>C	ENST00000649096.1:p.Ser215Arg
	ENST00000649306.1:c.643A>C	ENST00000649306.1:p.Ser215Arg
	ENST00000650053.1:c.643A>C	ENST00000650053.1:p.Ser215Arg
	ENST00000650130.1:c.643A>C	ENST00000650130.1:p.Ser215Arg
	ENST00000674907.2:c.643A>C	ENST00000674907.2:p.Ser215Arg
	ENST00000675126.2:c.643A>C	ENST00000675126.2:p.Ser215Arg
	ENST00000675940.2:c.643A>C	ENST00000675940.2:p.Ser215Arg
	ENST00000715177.1:c.643A>C	ENST00000715177.1:p.Ser215Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2017-03-31	criteria provided, single submitter	Intellectual disability, autosomal dominant 9	de novo germline	Detail
Pathogenic	2019-09-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-09-21	criteria provided, single submitter	hereditary spastic paraplegia 30	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) AND Intellectual disability, autosomal dominant 9	ClinVar	Detail
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) AND not provided	ClinVar	Detail
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) AND Hereditary spastic paraplegia 30	ClinVar	Detail
NA	DisGeNET	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: rs672601367 dbSNP
Genome: hg38
Position: chr2:240,785,066-240,785,066
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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