chr11:31800808:G>A Detail (hg38) (PAX6)

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

Information

Genome

Assembly	Position
hg19	chr11:31,822,356-31,822,356 View the variant detail on this assembly version.
hg38	chr11:31,800,808-31,800,808

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001127612.1:c.406C>T	NP_001121084.1:p.Gln136Ter
	NM_001604.5:c.448C>T	NP_001595.2:p.Gln150Ter
	NM_001310161.1:c.-3C>T
	NM_001310160.1:c.-3C>T
	NM_000280.4:c.448C>T	NP_000271.1:p.Gln150Ter
	NM_001258464.1:c.448C>T	NP_001245393.1:p.Gln150Ter
	NM_001310159.1:c.406C>T	NP_001297088.1:p.Gln136Ter
	NM_001258463.1:c.448C>T	NP_001245392.1:p.Gln150Ter
	NM_001258465.1:c.406C>T	NP_001245394.1:p.Gln136Ter
	NM_001310158.1:c.448C>T	NP_001297087.1:p.Gln150Ter
Ensemble	ENST00000241001.13:c.406C>T	ENST00000241001.13:p.Gln136Ter
	ENST00000379107.7:c.448C>T	ENST00000379107.7:p.Gln150Ter
	ENST00000379109.7:c.406C>T	ENST00000379109.7:p.Gln136Ter
	ENST00000379129.7:c.448C>T	ENST00000379129.7:p.Gln150Ter
	ENST00000379132.8:c.406C>T	ENST00000379132.8:p.Gln136Ter
	ENST00000419022.6:c.448C>T	ENST00000419022.6:p.Gln150Ter
	ENST00000481563.6:c.-3C>T
	ENST00000606377.7:c.448C>T	ENST00000606377.7:p.Gln150Ter
	ENST00000638629.1:c.-3C>T
	ENST00000638685.1:c.10+5594C>T
	ENST00000638696.1:c.340C>T	ENST00000638696.1:p.Gln114Ter
	ENST00000638755.1:c.298C>T	ENST00000638755.1:p.Gln100Ter
	ENST00000638914.3:c.448C>T	ENST00000638914.3:p.Gln150Ter
	ENST00000638963.1:c.406C>T	ENST00000638963.1:p.Gln136Ter
	ENST00000638965.1:c.-80-6020C>T
	ENST00000639034.2:c.406C>T	ENST00000639034.2:p.Gln136Ter
	ENST00000639386.2:c.-3C>T
	ENST00000639409.1:c.448C>T	ENST00000639409.1:p.Gln150Ter
	ENST00000639548.1:c.-3C>T
	ENST00000639916.1:c.406C>T	ENST00000639916.1:p.Gln136Ter
	ENST00000640125.1:c.-3C>T
	ENST00000640368.2:c.448C>T	ENST00000640368.2:p.Gln150Ter
	ENST00000640610.1:c.406C>T	ENST00000640610.1:p.Gln136Ter
	ENST00000640684.1:c.448C>T	ENST00000640684.1:p.Gln150Ter
	ENST00000640975.1:c.448C>T	ENST00000640975.1:p.Gln150Ter
	ENST00000643871.1:c.406C>T	ENST00000643871.1:p.Gln136Ter

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	1993-12-01	no assertion criteria provided	aniridia 1	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.448C>T (p.Gln150Ter) AND Aniridia 1	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: rs121907912 dbSNP
Genome: hg38
Position: chr11:31,800,808-31,800,808
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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