chr16:89598369:G>C Detail (hg19) (SPG7)

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

Genome

Assembly	Position
hg19	chr16:89,598,369-89,598,369
hg38	chr16:89,531,961-89,531,961 View the variant detail on this assembly version.

HGVS

SPG7

Type	Transcript	Protein
RefSeq	NM_199367.2:c.1045G>C	NP_955399.1:p.Gly349Arg
	NM_003119.3:c.1024G>C	NP_003110.1:p.Gly342Arg
Ensemble	ENST00000643649.1:c.1045G>C	ENST00000643649.1:p.Gly349Arg
	ENST00000341316.6:c.1045G>C	ENST00000341316.6:p.Gly349Arg
	ENST00000647079.1:c.637G>C	ENST00000647079.1:p.Gly213Arg
	ENST00000645063.1:c.1045G>C	ENST00000645063.1:p.Gly349Arg
	ENST00000268704.7:c.1024G>C	ENST00000268704.7:p.Gly342Arg
	ENST00000646303.1:c.913G>C	ENST00000646303.1:p.Gly305Arg
	ENST00000645818.2:c.1045G>C	ENST00000645818.2:p.Gly349Arg
	ENST00000644781.1:c.1045G>C	ENST00000644781.1:p.Gly349Arg
	ENST00000643307.1:c.1045G>C	ENST00000643307.1:p.Gly349Arg
	ENST00000646716.1:c.377-12687G>C
	ENST00000645897.1:c.987+1153G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

SPG7

Type	Database	ID	Link
Gene	MIM	602783	OMIM
	HGNC	11237	HGNC
	Ensembl	ENSG00000197912	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	NA	CLINVAR		Detail
0.560	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	The yeast complementation assay thus can serve as a reliable system to distingui...	UNIPROT	20186691	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
The yeast complementation assay thus can serve as a reliable system to distinguish a pathogenic muta...	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: -
Genome: hg19
Position: chr16:89,598,369-89,598,369
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8602
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120402
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6611019750502483E-5

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