chr11:67258278:C>T Detail (hg19) (AIP)

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

Information

Genome

Assembly	Position
hg19	chr11:67,258,278-67,258,278
hg38	chr11:67,490,807-67,490,807 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.807C>T	NP_001289888.1:p.Phe269=
	NM_001302960.1:c.807C>T	NP_001289889.1:p.Phe269=
	NM_003977.3:c.807C>T	NP_003968.3:p.Phe269=
Ensemble	ENST00000682659.1:c.438C>T	ENST00000682659.1:p.Phe146=
	ENST00000684657.1:c.627C>T	ENST00000684657.1:p.Phe209=
	ENST00000528641.7:c.618C>T	ENST00000528641.7:p.Phe206=
	ENST00000683856.1:c.630C>T	ENST00000683856.1:p.Phe210=
	ENST00000683237.1:c.799C>T	ENST00000683237.1:p.Gln267Ter
	ENST00000684006.1:c.796C>T	ENST00000684006.1:p.Gln266Ter
	ENST00000279146.8:c.807C>T	ENST00000279146.8:p.Phe269=

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	Conflicting classifications of pathogenicity
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
Conflicting interpretations of pathogenicity	2018-12-21	criteria provided, conflicting interpretations	Somatotroph adenoma	germline unknown	Detail
Likely benign	2021-06-23	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely benign	2023-08-25	criteria provided, single submitter	AIP-related disorder	germline	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.807C>T (p.Phe269=) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.807C>T (p.Phe269=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003977.4(AIP):c.807C>T (p.Phe269=) AND not provided	ClinVar	Detail
NM_003977.4(AIP):c.807C>T (p.Phe269=) AND AIP-related disorder	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: rs139407567 dbSNP
Genome: hg19
Position: chr11:67,258,278-67,258,278
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8576
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): 118092
Allele Counts in All Race (ExAC): 70
Heterozygous Counts in All Race (ExAC): 70
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.927581885309759E-4

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