chr2:241725930:C>A 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	chr2:241,725,930-241,725,930
hg38	chr2:240,786,513-240,786,513 View the variant detail on this assembly version.

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.430G>T	NP_004312.2:p.Val144Phe
	NM_001244008.1:c.430G>T	NP_001230937.1:p.Val144Phe
	NM_001320705.1:c.430G>T	NP_001307634.1:p.Val144Phe
Ensemble	ENST00000320389.12:c.430G>T	ENST00000320389.12:p.Val144Phe
	ENST00000404283.9:c.430G>T	ENST00000404283.9:p.Val144Phe
	ENST00000431776.7:c.430G>T	ENST00000431776.7:p.Val144Phe
	ENST00000498729.9:c.430G>T	ENST00000498729.9:p.Val144Phe
	ENST00000647572.2:c.430G>T	ENST00000647572.2:p.Val144Phe
	ENST00000647731.1:c.430G>T	ENST00000647731.1:p.Val144Phe
	ENST00000647885.1:c.430G>T	ENST00000647885.1:p.Val144Phe
	ENST00000648047.2:c.430G>T	ENST00000648047.2:p.Val144Phe
	ENST00000648129.1:c.430G>T	ENST00000648129.1:p.Val144Phe
	ENST00000648364.1:c.430G>T	ENST00000648364.1:p.Val144Phe
	ENST00000648680.1:c.430G>T	ENST00000648680.1:p.Val144Phe
	ENST00000649096.1:c.430G>T	ENST00000649096.1:p.Val144Phe
	ENST00000649306.1:c.430G>T	ENST00000649306.1:p.Val144Phe
	ENST00000650053.1:c.430G>T	ENST00000650053.1:p.Val144Phe
	ENST00000650130.1:c.430G>T	ENST00000650130.1:p.Val144Phe
	ENST00000674907.2:c.430G>T	ENST00000674907.2:p.Val144Phe
	ENST00000675126.2:c.430G>T	ENST00000675126.2:p.Val144Phe
	ENST00000675940.2:c.430G>T	ENST00000675940.2:p.Val144Phe
	ENST00000715177.1:c.430G>T	ENST00000715177.1:p.Val144Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2020-06-15	criteria provided, single submitter	Intellectual disability, autosomal dominant 9	de novo 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.430G>T (p.Val144Phe) AND Intellectual disability, autosomal dominant 9	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: rs672601364 dbSNP
Genome: hg19
Position: chr2:241,725,930-241,725,930
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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