chr7:120480084:G>A Detail (hg19) (TSPAN12)

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

Information

Genome

Assembly	Position
hg19	chr7:120,480,084-120,480,084
hg38	chr7:120,840,030-120,840,030 View the variant detail on this assembly version.

HGVS

TSPAN12

Type	Transcript	Protein
RefSeq	NM_012338.3:c.146C>T	NP_036470.1:p.Thr49Met
Ensemble	ENST00000222747.8:c.146C>T	ENST00000222747.8:p.Thr49Met
	ENST00000415871.5:c.146C>T	ENST00000415871.5:p.Thr49Met

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

TSPAN12

Type	Database	ID	Link
Gene	MIM	613138	OMIM
	HGNC	21641	HGNC
	Ensembl	ENSG00000106025	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	2012-05-14	no assertion criteria provided	exudative vitreoretinopathy 5	germline	Detail
Uncertain significance	2022-11-30	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	exudative vitreoretinopathy 5	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) AND Exudative vitreoretinopathy 5	ClinVar	Detail
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) AND not provided	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: rs538591733 dbSNP
Genome: hg19
Position: chr7:120,480,084-120,480,084
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8598
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): 119974
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 8.335139280177371E-6

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