chr16:89576947:T>A 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	chr16:89,576,947-89,576,947
hg38	chr16:89,510,539-89,510,539 View the variant detail on this assembly version.

HGVS

SPG7

Type	Transcript	Protein
RefSeq	NM_003119.3:c.233T>A	NP_003110.1:p.Leu78Ter
	NM_199367.2:c.233T>A	NP_955399.1:p.Leu78Ter
Ensemble	ENST00000645897.1:c.233T>A	ENST00000645897.1:p.Leu78Ter
	ENST00000643307.1:c.233T>A	ENST00000643307.1:p.Leu78Ter
	ENST00000646716.1:c.233T>A	ENST00000646716.1:p.Leu78Ter
	ENST00000644781.1:c.233T>A	ENST00000644781.1:p.Leu78Ter
	ENST00000645818.2:c.233T>A	ENST00000645818.2:p.Leu78Ter
	ENST00000645063.1:c.233T>A	ENST00000645063.1:p.Leu78Ter
	ENST00000268704.7:c.233T>A	ENST00000268704.7:p.Leu78Ter
	ENST00000646303.1:c.101T>A	ENST00000646303.1:p.Leu34Ter
	ENST00000647079.1:c.-176T>A
	ENST00000341316.6:c.233T>A	ENST00000341316.6:p.Leu78Ter
	ENST00000643649.1:c.233T>A	ENST00000643649.1:p.Leu78Ter

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	Pathogenic Likely pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-11-09	criteria provided, multiple submitters, no conflicts	hereditary spastic paraplegia 7	germline inherited unknown	Detail
Pathogenic	2023-07-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2018-04-26	no assertion criteria provided	Proximal spinal muscular atrophy	unknown	Detail
Pathogenic	2021-03-01	criteria provided, single submitter	hereditary spastic paraplegia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) AND Hereditary spastic paraplegia 7	ClinVar	Detail
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) AND not provided	ClinVar	Detail
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) AND Proximal spinal muscular atrophy	ClinVar	Detail
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) AND Hereditary spastic paraplegia	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: rs121918358 dbSNP
Genome: hg19
Position: chr16:89,576,947-89,576,947
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8638
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): 120640
Allele Counts in All Race (ExAC): 57
Heterozygous Counts in All Race (ExAC): 57
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.7248010610079574E-4

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