chr11:31823441:A>T 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	chr11:31,823,441-31,823,441
hg38	chr11:31,801,893-31,801,893 View the variant detail on this assembly version.

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001310161.1:c.-290T>A
	NM_001604.5:c.161T>A	NP_001595.2:p.Val54Asp
	NM_001127612.1:c.142-117T>A
	NM_001310160.1:c.-621T>A
	NM_000280.4:c.161T>A	NP_000271.1:p.Val54Asp
	NM_001258464.1:c.161T>A	NP_001245393.1:p.Val54Asp
	NM_001310159.1:c.142-117T>A
	NM_001258463.1:c.161T>A	NP_001245392.1:p.Val54Asp
	NM_001258465.1:c.142-117T>A
	NM_001310158.1:c.161T>A	NP_001297087.1:p.Val54Asp
Ensemble	ENST00000481563.6:c.-290T>A
	ENST00000379132.8:c.142-117T>A
	ENST00000419022.6:c.161T>A	ENST00000419022.6:p.Val54Asp
	ENST00000379129.7:c.161T>A	ENST00000379129.7:p.Val54Asp
	ENST00000379109.7:c.142-117T>A
	ENST00000241001.13:c.142-117T>A
	ENST00000379107.7:c.161T>A	ENST00000379107.7:p.Val54Asp
	ENST00000606377.7:c.161T>A	ENST00000606377.7:p.Val54Asp
	ENST00000638629.1:c.-621T>A
	ENST00000638685.1:c.10+4509T>A
	ENST00000638696.1:c.161T>A	ENST00000638696.1:p.Val54Asp
	ENST00000638755.1:c.142-117T>A
	ENST00000638914.3:c.161T>A	ENST00000638914.3:p.Val54Asp
	ENST00000638963.1:c.142-117T>A
	ENST00000638965.1:c.-80-7105T>A
	ENST00000639034.2:c.142-117T>A
	ENST00000639386.2:c.-267-117T>A
	ENST00000639409.1:c.161T>A	ENST00000639409.1:p.Val54Asp
	ENST00000639548.1:c.-182T>A
	ENST00000639916.1:c.142-117T>A
	ENST00000640125.1:c.-159-117T>A
	ENST00000640368.2:c.161T>A	ENST00000640368.2:p.Val54Asp
	ENST00000640610.1:c.142-117T>A
	ENST00000640684.1:c.161T>A	ENST00000640684.1:p.Val54Asp
	ENST00000640975.1:c.161T>A	ENST00000640975.1:p.Val54Asp
	ENST00000643871.1:c.142-117T>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
Pathogenic	aniridia	unknown	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic	Peters anomaly	unknown	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic	foveal hypoplasia	unknown	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-09-01	no assertion criteria provided	ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES	germline	Detail
Pathogenic	1999-09-01	no assertion criteria provided	Foveal hypoplasia 1 with or without anterior segment anomalies	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.563	Irido-corneo-trabecular dysgenesis (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) AND ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES	ClinVar	Detail
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) AND Foveal hypoplasia 1 with or without anterior segment ...	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: rs121907921 dbSNP
Genome: hg19
Position: chr11:31,823,441-31,823,441
Variant Type: snv
Reference Allele: A
Alternative Allele: T

Genome browser

chr11:31823441:A>T Detail (hg19) (PAX6)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript