chr11:31802733:G>A Detail (hg38) (PAX6)

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

Genome

Assembly	Position
hg19	chr11:31,824,281-31,824,281 View the variant detail on this assembly version.
hg38	chr11:31,802,733-31,802,733

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001127612.1:c.112C>T	NP_001121084.1:p.Arg38Trp
	NM_001604.5:c.112C>T	NP_001595.2:p.Arg38Trp
	NM_001310161.1:c.-339C>T
	NM_001310160.1:c.-670C>T
	NM_000280.4:c.112C>T	NP_000271.1:p.Arg38Trp
	NM_001258464.1:c.112C>T	NP_001245393.1:p.Arg38Trp
	NM_001310159.1:c.112C>T	NP_001297088.1:p.Arg38Trp
	NM_001258463.1:c.112C>T	NP_001245392.1:p.Arg38Trp
	NM_001258465.1:c.112C>T	NP_001245394.1:p.Arg38Trp
	NM_001310158.1:c.112C>T	NP_001297087.1:p.Arg38Trp
Ensemble	ENST00000241001.13:c.112C>T	ENST00000241001.13:p.Arg38Trp
	ENST00000379107.7:c.112C>T	ENST00000379107.7:p.Arg38Trp
	ENST00000379109.7:c.112C>T	ENST00000379109.7:p.Arg38Trp
	ENST00000379129.7:c.112C>T	ENST00000379129.7:p.Arg38Trp
	ENST00000379132.8:c.112C>T	ENST00000379132.8:p.Arg38Trp
	ENST00000419022.6:c.112C>T	ENST00000419022.6:p.Arg38Trp
	ENST00000481563.6:c.-339C>T
	ENST00000606377.7:c.112C>T	ENST00000606377.7:p.Arg38Trp
	ENST00000638629.1:c.-670C>T
	ENST00000638685.1:c.10+3669C>T
	ENST00000638696.1:c.112C>T	ENST00000638696.1:p.Arg38Trp
	ENST00000638755.1:c.112C>T	ENST00000638755.1:p.Arg38Trp
	ENST00000638914.3:c.112C>T	ENST00000638914.3:p.Arg38Trp
	ENST00000638963.1:c.112C>T	ENST00000638963.1:p.Arg38Trp
	ENST00000638965.1:c.-80-7945C>T
	ENST00000639034.2:c.112C>T	ENST00000639034.2:p.Arg38Trp
	ENST00000639386.2:c.-297C>T
	ENST00000639409.1:c.112C>T	ENST00000639409.1:p.Arg38Trp
	ENST00000639548.1:c.-231C>T
	ENST00000639916.1:c.112C>T	ENST00000639916.1:p.Arg38Trp
	ENST00000640125.1:c.-189C>T
	ENST00000640368.2:c.112C>T	ENST00000640368.2:p.Arg38Trp
	ENST00000640610.1:c.112C>T	ENST00000640610.1:p.Arg38Trp
	ENST00000640684.1:c.112C>T	ENST00000640684.1:p.Arg38Trp
	ENST00000640975.1:c.112C>T	ENST00000640975.1:p.Arg38Trp
	ENST00000643871.1:c.112C>T	ENST00000643871.1:p.Arg38Trp

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	2009-11-01	no assertion criteria provided	aniridia 1	germline	Detail
Pathogenic	2023-10-15	criteria provided, single submitter	Irido-corneo-trabecular dysgenesis,aniridia 1	germline	Detail
Pathogenic	2023-10-15	criteria provided, single submitter	Irido-corneo-trabecular dysgenesis,aniridia 1	germline	Detail
Pathogenic	2009-11-01	no assertion criteria provided	Coloboma, ocular, autosomal dominant	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.606	aniridia	NA	CLINVAR		Detail
<0.001	neurofibromatosis 1	A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris...	BeFree	17406642	Detail
<0.001	Neurofibromatoses	A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris...	BeFree	17406642	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) AND Aniridia 1	ClinVar	Detail
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) AND Coloboma, ocular, autosomal dominant	ClinVar	Detail
NA	DisGeNET	Detail
A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not b...	DisGeNET	Detail
A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not b...	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: rs397514640 dbSNP
Genome: hg38
Position: chr11:31,802,733-31,802,733
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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