chr11:67256927:G>A Detail (hg19) (AIP)

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

Genome

Assembly	Position
hg19	chr11:67,256,927-67,256,927
hg38	chr11:67,489,456-67,489,456 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.468+1G>A
	NM_001302960.1:c.468+1G>A
	NM_003977.3:c.468+1G>A
Ensemble	ENST00000279146.8:c.468+1G>A
	ENST00000684006.1:c.468+1G>A
	ENST00000683237.1:c.468+1G>A
	ENST00000528641.7:c.280-582G>A
	ENST00000683856.1:c.291+1G>A
	ENST00000684657.1:c.288+1G>A
	ENST00000682659.1:c.100-582G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
Show details

Links

AIP

Type	Database	ID	Link
Gene	MIM	605555	OMIM
	HGNC	358	HGNC
	Ensembl	ENSG00000110711	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
not provided		no assertion provided	Somatotroph adenoma	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003977.4(AIP):c.468+1G>A AND Somatotroph adenoma	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs267606554 dbSNP
Genome: hg19
Position: chr11:67,256,927-67,256,927
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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