chr11:67250669:C>T 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	chr11:67,250,669-67,250,669
hg38	chr11:67,483,198-67,483,198 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.40C>T	NP_001289888.1:p.Gln14Ter
	NM_001302960.1:c.40C>T	NP_001289889.1:p.Gln14Ter
	NM_003977.3:c.40C>T	NP_003968.3:p.Gln14Ter
Ensemble	ENST00000528641.7:c.40C>T	ENST00000528641.7:p.Gln14Ter
	ENST00000682659.1:c.40C>T	ENST00000682659.1:p.Gln14Ter
	ENST00000684657.1:c.40C>T	ENST00000684657.1:p.Gln14Ter
	ENST00000684006.1:c.40C>T	ENST00000684006.1:p.Gln14Ter
	ENST00000279146.8:c.40C>T	ENST00000279146.8:p.Gln14Ter
	ENST00000683237.1:c.40C>T	ENST00000683237.1:p.Gln14Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2006-05-26	no assertion criteria provided	Pituitary adenoma predisposition	germline	Detail
Pathogenic	2006-05-26	no assertion criteria provided	Somatotroph adenoma	germline	Detail
Pathogenic	2019-09-25	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-01-31	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.242	prolactinoma	NA	CLINVAR		Detail
0.241	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR		Detail
0.125	PITUITARY ADENOMA PREDISPOSITION (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND Pituitary adenoma predisposition	ClinVar	Detail
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs104894194 dbSNP
Genome: hg19
Position: chr11:67,250,669-67,250,669
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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