chr13:36878549:C>T 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	chr13:36,878,549-36,878,549
hg38	chr13:36,304,412-36,304,412 View the variant detail on this assembly version.

HGVS

SPART

Type	Transcript	Protein
RefSeq	NM_001142294.1:c.1954G>A	NP_001135766.1:p.Asp652Asn
	NM_001142296.1:c.1954G>A	NP_001135768.1:p.Asp652Asn
	NM_001142295.1:c.1954G>A	NP_001135767.1:p.Asp652Asn
	NM_015087.4:c.1954G>A	NP_055902.1:p.Asp652Asn
Ensemble	ENST00000355182.8:c.1954G>A	ENST00000355182.8:p.Asp652Asn
	ENST00000494062.2:c.1954G>A	ENST00000494062.2:p.Asp652Asn
	ENST00000650221.1:c.1954G>A	ENST00000650221.1:p.Asp652Asn
	ENST00000451493.5:c.1954G>A	ENST00000451493.5:p.Asp652Asn
	ENST00000438666.7:c.1954G>A	ENST00000438666.7:p.Asp652Asn

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	Uncertain significance
Review star
Show details

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	2018-01-12	criteria provided, single submitter	Troyer syndrome	germline	Detail
Uncertain significance	2022-10-08	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-10-25	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) AND Troyer syndrome	ClinVar	Detail
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) AND not provided	ClinVar	Detail
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) AND Inborn genetic diseases	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: rs143274967 dbSNP
Genome: hg19
Position: chr13:36,878,549-36,878,549
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121390
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237910865804433E-6

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