SGCE c.109+1G>T Detail (hg19) (SGCE)

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

Genome

Assembly	Position
hg19	chr7:94,285,301-94,285,301
hg38	chr7:94,655,989-94,655,989 View the variant detail on this assembly version.

HGVS

SGCE

Type	Transcript	Protein
RefSeq	NM_001099400.1:c.109+1G>T
	NM_001301139.1:c.109+1G>T
	NM_001099401.1:c.109+1G>T
	NM_001346717.1:c.109+1G>T
Ensemble	ENST00000428696.7:c.109+1G>T
	ENST00000437425.7:c.109+1G>T
	ENST00000445866.7:c.109+1G>T
	ENST00000415788.3:c.109+1G>T
	ENST00000447873.6:c.109+1G>T
	ENST00000646879.1:c.109+1G>T
	ENST00000646943.1:c.109+1G>T
	ENST00000647018.1:c.109+1G>T
	ENST00000647096.1:c.109+1G>T
	ENST00000647351.1:c.109+1G>T
	ENST00000648936.2:c.109+1G>T
	ENST00000642441.1:c.109+1G>T
	ENST00000642707.1:c.109+1G>T
	ENST00000644122.1:c.109+1G>T
	ENST00000644609.1:c.109+1G>T
	ENST00000645535.1:c.-165+365G>T
	ENST00000644116.1:c.109+1G>T
	ENST00000643128.1:c.109+1G>T
	ENST00000643903.1:c.109+1G>T
	ENST00000643193.1:c.109+1G>T
	ENST00000645109.1:c.109+1G>T
	ENST00000642933.1:c.109+1G>T
	ENST00000646489.1:c.109+1G>T
	ENST00000643272.1:c.109+1G>T
	ENST00000644816.1:c.109+1G>T
	ENST00000645725.1:c.109+1G>T
	ENST00000642394.1:c.109+1G>T
	ENST00000644551.1:c.109+1G>T
	ENST00000646137.1:c.109+1G>T
	ENST00000644375.1:c.109+1G>T
	ENST00000644681.1:c.-227+365G>T
	ENST00000645101.1:c.109+1G>T
	ENST00000646098.1:c.109+1G>T
	ENST00000645262.1:c.109+1G>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

SGCE

Type	Database	ID	Link
Gene	MIM	604149	OMIM
	HGNC	10808	HGNC
	Ensembl	ENSG00000127990	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

OVERLAPPED TRANSCRIPT
INFO

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr7:94,285,301-94,285,301
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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