chr13:36909607:C>A Detail (hg19) (SPART)

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

Genome

Assembly	Position
hg19	chr13:36,909,607-36,909,607
hg38	chr13:36,335,470-36,335,470 View the variant detail on this assembly version.

HGVS

SPART

Type	Transcript	Protein
RefSeq	NM_001142294.1:c.361G>T	NP_001135766.1:p.Asp121Tyr
	NM_001142296.1:c.361G>T	NP_001135768.1:p.Asp121Tyr
	NM_015087.4:c.361G>T	NP_055902.1:p.Asp121Tyr
	NM_001142295.1:c.361G>T	NP_001135767.1:p.Asp121Tyr
Ensemble	ENST00000355182.8:c.361G>T	ENST00000355182.8:p.Asp121Tyr
	ENST00000650221.1:c.361G>T	ENST00000650221.1:p.Asp121Tyr
	ENST00000494062.2:c.361G>T	ENST00000494062.2:p.Asp121Tyr
	ENST00000438666.7:c.361G>T	ENST00000438666.7:p.Asp121Tyr
	ENST00000451493.5:c.361G>T	ENST00000451493.5:p.Asp121Tyr

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	Conflicting classifications of pathogenicity
Review star
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Links

SPART

Type	Database	ID	Link
Gene	MIM	607111	OMIM
	HGNC	18514	HGNC
	Ensembl	ENSG00000133104	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
Uncertain significance	2018-01-13	criteria provided, single submitter	Troyer syndrome	germline	Detail
Likely benign	2017-01-18	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2023-12-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2016-12-12	criteria provided, single submitter	hereditary spastic paraplegia	germline	Detail
Benign	2019-09-12	criteria provided, single submitter	SPART-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND Troyer syndrome	ClinVar	Detail
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND not specified	ClinVar	Detail
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND not provided	ClinVar	Detail
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND Hereditary spastic paraplegia	ClinVar	Detail
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) AND SPART-related disorder	ClinVar	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: rs146398746 dbSNP
Genome: hg19
Position: chr13:36,909,607-36,909,607
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8642
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): 121200
Allele Counts in All Race (ExAC): 231
Heterozygous Counts in All Race (ExAC): 231
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.001905940594059406

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