chr11:67490412:TAC> Detail (hg38) (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	chr11:67,257,883-67,257,885
hg38	chr11:67,490,412-67,490,414

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.742_744delTAC	NP_001289888.1:p.Tyr248del
	NM_001302960.1:c.742_744delTAC	NP_001289889.1:p.Tyr248del
	NM_003977.3:c.742_744delTAC	NP_003968.3:p.Tyr248del
Ensemble	ENST00000279146.8:c.742_744delTAC	ENST00000279146.8:p.Tyr248del
	ENST00000528641.7:c.553_555delTAC	ENST00000528641.7:p.Tyr185del
	ENST00000682659.1:c.373_375delTAC	ENST00000682659.1:p.Tyr125del
	ENST00000683237.1:c.742_744delTAC	ENST00000683237.1:p.Tyr248del
	ENST00000683856.1:c.565_567delTAC	ENST00000683856.1:p.Tyr189del
	ENST00000684006.1:c.742_744delTAC	ENST00000684006.1:p.Tyr248del
	ENST00000684657.1:c.562_564delTAC	ENST00000684657.1:p.Tyr188del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs267606574 dbSNP
Genome: hg38
Position: chr11:67,490,412-67,490,414
Variant Type: snv
Reference Allele: TAC
Alternative Allele: -

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