chr11:31824347:C> Detail (hg19) (PAX6)

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

Information

Genome

Assembly	Position
hg19	chr11:31,824,347-31,824,347
hg38	chr11:31,802,799-31,802,799

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001310158.1:c.46delG	NP_001297087.1:p.Val16SerfsTer15
	NM_001310159.1:c.46delG	NP_001297088.1:p.Val16SerfsTer15
	NM_001310160.1:c.-736delG
	NM_001127612.1:c.46delG	NP_001121084.1:p.Val16SerfsTer15
	NM_001258465.1:c.46delG	NP_001245394.1:p.Val16SerfsTer15
	NM_001604.5:c.46delG	NP_001595.2:p.Val16SerfsTer15
	NM_001310161.1:c.-405delG
	NM_000280.4:c.46delG	NP_000271.1:p.Val16SerfsTer15
	NM_001258464.1:c.46delG	NP_001245393.1:p.Val16SerfsTer15
	NM_001258463.1:c.46delG	NP_001245392.1:p.Val16SerfsTer15
Ensemble	ENST00000639548.1:c.-297delG
	ENST00000640610.1:c.46delG	ENST00000640610.1:p.Val16SerfsTer15
	ENST00000640125.1:c.-255delG
	ENST00000640975.1:c.46delG	ENST00000640975.1:p.Val16SerfsTer15
	ENST00000639034.2:c.46delG	ENST00000639034.2:p.Val16SerfsTer15
	ENST00000638963.1:c.46delG	ENST00000638963.1:p.Val16SerfsTer15
	ENST00000638965.1:c.-80-8011delG
	ENST00000379129.7:c.46delG	ENST00000379129.7:p.Val16SerfsTer15
	ENST00000638629.1:c.-736delG
	ENST00000379107.7:c.46delG	ENST00000379107.7:p.Val16SerfsTer15
	ENST00000640684.1:c.46delG	ENST00000640684.1:p.Val16SerfsTer15
	ENST00000639386.2:c.-363delG
	ENST00000379109.7:c.46delG	ENST00000379109.7:p.Val16SerfsTer15
	ENST00000241001.13:c.46delG	ENST00000241001.13:p.Val16SerfsTer15
	ENST00000639916.1:c.46delG	ENST00000639916.1:p.Val16SerfsTer15
	ENST00000419022.6:c.46delG	ENST00000419022.6:p.Val16SerfsTer15
	ENST00000379132.8:c.46delG	ENST00000379132.8:p.Val16SerfsTer15
	ENST00000606377.7:c.46delG	ENST00000606377.7:p.Val16SerfsTer15
	ENST00000481563.6:c.-405delG
	ENST00000643871.1:c.46delG	ENST00000643871.1:p.Val16SerfsTer15
	ENST00000638696.1:c.46delG	ENST00000638696.1:p.Val16SerfsTer15
	ENST00000638755.1:c.46delG	ENST00000638755.1:p.Val16SerfsTer15
	ENST00000638914.3:c.46delG	ENST00000638914.3:p.Val16SerfsTer15
	ENST00000640368.2:c.46delG	ENST00000640368.2:p.Val16SerfsTer15
	ENST00000639409.1:c.46delG	ENST00000639409.1:p.Val16SerfsTer15
	ENST00000638685.1:c.10+3603delG

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

PAX6

Type	Database	ID	Link
Gene	MIM	607108	OMIM
	HGNC	8620	HGNC
	Ensembl	ENSG00000007372	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	2013-08-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.606	aniridia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001368894.2(PAX6):c.46del (p.Val16fs) 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: rs398123296 dbSNP
Genome: hg19
Position: chr11:31,824,347-31,824,347
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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