chr11:31816253:G>A 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	chr11:31,816,253-31,816,253
hg38	chr11:31,794,705-31,794,705 View the variant detail on this assembly version.

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001127612.1:c.607C>T	NP_001121084.1:p.Arg203Ter
	NM_001604.5:c.649C>T	NP_001595.2:p.Arg217Ter
	NM_001310161.1:c.199C>T	NP_001297090.1:p.Arg67Ter
	NM_001310160.1:c.199C>T	NP_001297089.1:p.Arg67Ter
	NM_000280.4:c.649C>T	NP_000271.1:p.Arg217Ter
	NM_001258464.1:c.649C>T	NP_001245393.1:p.Arg217Ter
	NM_001310159.1:c.607C>T	NP_001297088.1:p.Arg203Ter
	NM_001258463.1:c.649C>T	NP_001245392.1:p.Arg217Ter
	NM_001258465.1:c.607C>T	NP_001245394.1:p.Arg203Ter
	NM_001310158.1:c.649C>T	NP_001297087.1:p.Arg217Ter
Ensemble	ENST00000379132.8:c.607C>T	ENST00000379132.8:p.Arg203Ter
	ENST00000379109.7:c.607C>T	ENST00000379109.7:p.Arg203Ter
	ENST00000379107.7:c.649C>T	ENST00000379107.7:p.Arg217Ter
	ENST00000379129.7:c.649C>T	ENST00000379129.7:p.Arg217Ter
	ENST00000241001.13:c.607C>T	ENST00000241001.13:p.Arg203Ter
	ENST00000419022.6:c.649C>T	ENST00000419022.6:p.Arg217Ter
	ENST00000481563.6:c.199C>T	ENST00000481563.6:p.Arg67Ter
	ENST00000606377.7:c.649C>T	ENST00000606377.7:p.Arg217Ter
	ENST00000638629.1:c.199C>T	ENST00000638629.1:p.Arg67Ter
	ENST00000638685.1:c.94C>T	ENST00000638685.1:p.Arg32Ter
	ENST00000638696.1:c.541C>T	ENST00000638696.1:p.Arg181Ter
	ENST00000638755.1:c.499C>T	ENST00000638755.1:p.Arg167Ter
	ENST00000638914.3:c.649C>T	ENST00000638914.3:p.Arg217Ter
	ENST00000638963.1:c.607C>T	ENST00000638963.1:p.Arg203Ter
	ENST00000638965.1:c.4C>T	ENST00000638965.1:p.Arg2Ter
	ENST00000639034.2:c.607C>T	ENST00000639034.2:p.Arg203Ter
	ENST00000639386.2:c.199C>T	ENST00000639386.2:p.Arg67Ter
	ENST00000639409.1:c.649C>T	ENST00000639409.1:p.Arg217Ter
	ENST00000639548.1:c.199C>T	ENST00000639548.1:p.Arg67Ter
	ENST00000639916.1:c.607C>T	ENST00000639916.1:p.Arg203Ter
	ENST00000640125.1:c.199C>T	ENST00000640125.1:p.Arg67Ter
	ENST00000640368.2:c.649C>T	ENST00000640368.2:p.Arg217Ter
	ENST00000640610.1:c.607C>T	ENST00000640610.1:p.Arg203Ter
	ENST00000640684.1:c.649C>T	ENST00000640684.1:p.Arg217Ter
	ENST00000640975.1:c.649C>T	ENST00000640975.1:p.Arg217Ter
	ENST00000643871.1:c.607C>T	ENST00000643871.1:p.Arg203Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM6490044	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		aniridia	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-08-15	criteria provided, multiple submitters, no conflicts	aniridia 1	de novo germline inherited maternal unknown	Detail
Pathogenic	2022-02-11	criteria provided, single submitter	aniridia 1,Irido-corneo-trabecular dysgenesis	germline	Detail
Pathogenic	2022-02-11	criteria provided, single submitter	aniridia 1,Irido-corneo-trabecular dysgenesis	germline	Detail
Pathogenic	2022-02-08	criteria provided, multiple submitters, no conflicts	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.649C>T (p.Arg217Ter) AND Aniridia 1	ClinVar	Detail
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) 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: rs121907916 dbSNP
Genome: hg19
Position: chr11:31,816,253-31,816,253
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chr11:31816253:G>A Detail (hg19) (PAX6)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript