chr2:240789246:G>A 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	chr2:241,728,663-241,728,663 View the variant detail on this assembly version.
hg38	chr2:240,789,246-240,789,246

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.173C>T	NP_004312.2:p.Ser58Leu
	NM_001244008.1:c.173C>T	NP_001230937.1:p.Ser58Leu
	NM_001320705.1:c.173C>T	NP_001307634.1:p.Ser58Leu
Ensemble	ENST00000320389.12:c.173C>T	ENST00000320389.12:p.Ser58Leu
	ENST00000404283.9:c.173C>T	ENST00000404283.9:p.Ser58Leu
	ENST00000431776.7:c.173C>T	ENST00000431776.7:p.Ser58Leu
	ENST00000498729.9:c.173C>T	ENST00000498729.9:p.Ser58Leu
	ENST00000647572.2:c.173C>T	ENST00000647572.2:p.Ser58Leu
	ENST00000647731.1:c.173C>T	ENST00000647731.1:p.Ser58Leu
	ENST00000647885.1:c.173C>T	ENST00000647885.1:p.Ser58Leu
	ENST00000648047.2:c.173C>T	ENST00000648047.2:p.Ser58Leu
	ENST00000648129.1:c.173C>T	ENST00000648129.1:p.Ser58Leu
	ENST00000648364.1:c.173C>T	ENST00000648364.1:p.Ser58Leu
	ENST00000648680.1:c.173C>T	ENST00000648680.1:p.Ser58Leu
	ENST00000649096.1:c.173C>T	ENST00000649096.1:p.Ser58Leu
	ENST00000649306.1:c.173C>T	ENST00000649306.1:p.Ser58Leu
	ENST00000650053.1:c.173C>T	ENST00000650053.1:p.Ser58Leu
	ENST00000650130.1:c.173C>T	ENST00000650130.1:p.Ser58Leu
	ENST00000674907.2:c.173C>T	ENST00000674907.2:p.Ser58Leu
	ENST00000675126.2:c.173C>T	ENST00000675126.2:p.Ser58Leu
	ENST00000675940.2:c.173C>T	ENST00000675940.2:p.Ser58Leu
	ENST00000715177.1:c.173C>T	ENST00000715177.1:p.Ser58Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2016-03-10	criteria provided, single submitter	Intellectual disability, autosomal dominant 9	de novo germline	Detail
Pathogenic	2019-05-28	criteria provided, multiple submitters, no conflicts	hereditary spastic paraplegia 30	unknown	Detail
Likely pathogenic	2018-04-13	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2021-04-02	criteria provided, single submitter	hereditary spastic paraplegia 30,Neuropathy, hereditary sensory, type 2C,Intellectual disability, autosomal dominant 9	germline	Detail
Pathogenic	2021-04-02	criteria provided, single submitter	hereditary spastic paraplegia 30,Neuropathy, hereditary sensory, type 2C,Intellectual disability, autosomal dominant 9	germline	Detail
Pathogenic	2021-04-02	criteria provided, single submitter	hereditary spastic paraplegia 30,Neuropathy, hereditary sensory, type 2C,Intellectual disability, autosomal dominant 9	germline	Detail
Pathogenic		criteria provided, single submitter		de novo	Detail
Pathogenic	2022-07-07	criteria provided, single submitter	not provided	germline	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.173C>T (p.Ser58Leu) AND Intellectual disability, autosomal dominant 9	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND Hereditary spastic paraplegia 30	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND Inborn genetic diseases	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND multiple conditions	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND Neurodevelopmental delay	ClinVar	Detail
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) AND not provided	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: rs672601362 dbSNP
Genome: hg38
Position: chr2:240,789,246-240,789,246
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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