chr11:67490153:T>C 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	chr11:67,257,624-67,257,624 View the variant detail on this assembly version.
hg38	chr11:67,490,153-67,490,153

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.584T>C	NP_001289888.1:p.Val195Ala
	NM_001302960.1:c.584T>C	NP_001289889.1:p.Val195Ala
	NM_003977.3:c.584T>C	NP_003968.3:p.Val195Ala
Ensemble	ENST00000279146.8:c.584T>C	ENST00000279146.8:p.Val195Ala
	ENST00000528641.7:c.395T>C	ENST00000528641.7:p.Val132Ala
	ENST00000682659.1:c.215T>C	ENST00000682659.1:p.Val72Ala
	ENST00000683237.1:c.584T>C	ENST00000683237.1:p.Val195Ala
	ENST00000683856.1:c.407T>C	ENST00000683856.1:p.Val136Ala
	ENST00000684006.1:c.584T>C	ENST00000684006.1:p.Val195Ala
	ENST00000684657.1:c.404T>C	ENST00000684657.1:p.Val135Ala

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
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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
not provided		no assertion provided	Somatotroph adenoma	unknown	Detail
Likely benign	2022-09-26	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-04	criteria provided, single submitter	not provided	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.584T>C (p.Val195Ala) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.584T>C (p.Val195Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003977.4(AIP):c.584T>C (p.Val195Ala) AND not provided	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: rs267606561 dbSNP
Genome: hg38
Position: chr11:67,490,153-67,490,153
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8616
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): 118948
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.5221105020681307E-5

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