chr11:31801561:G>T 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	chr11:31,823,109-31,823,109 View the variant detail on this assembly version.
hg38	chr11:31,801,561-31,801,561

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_001127612.1:c.357C>A	NP_001121084.1:p.Ser119Arg
	NM_001604.5:c.399C>A	NP_001595.2:p.Ser133Arg
	NM_001310161.1:c.-52C>A
	NM_001310160.1:c.-383C>A
	NM_000280.4:c.399C>A	NP_000271.1:p.Ser133Arg
	NM_001258464.1:c.399C>A	NP_001245393.1:p.Ser133Arg
	NM_001310159.1:c.357C>A	NP_001297088.1:p.Ser119Arg
	NM_001258463.1:c.399C>A	NP_001245392.1:p.Ser133Arg
	NM_001258465.1:c.357C>A	NP_001245394.1:p.Ser119Arg
	NM_001310158.1:c.399C>A	NP_001297087.1:p.Ser133Arg
Ensemble	ENST00000241001.13:c.357C>A	ENST00000241001.13:p.Ser119Arg
	ENST00000379107.7:c.399C>A	ENST00000379107.7:p.Ser133Arg
	ENST00000379109.7:c.357C>A	ENST00000379109.7:p.Ser119Arg
	ENST00000379129.7:c.399C>A	ENST00000379129.7:p.Ser133Arg
	ENST00000379132.8:c.357C>A	ENST00000379132.8:p.Ser119Arg
	ENST00000419022.6:c.399C>A	ENST00000419022.6:p.Ser133Arg
	ENST00000481563.6:c.-52C>A
	ENST00000606377.7:c.399C>A	ENST00000606377.7:p.Ser133Arg
	ENST00000638629.1:c.-383C>A
	ENST00000638685.1:c.10+4841C>A
	ENST00000638696.1:c.291+108C>A
	ENST00000638755.1:c.249+108C>A
	ENST00000638914.3:c.399C>A	ENST00000638914.3:p.Ser133Arg
	ENST00000638963.1:c.357C>A	ENST00000638963.1:p.Ser119Arg
	ENST00000638965.1:c.-80-6773C>A
	ENST00000639034.2:c.357C>A	ENST00000639034.2:p.Ser119Arg
	ENST00000639386.2:c.-52C>A
	ENST00000639409.1:c.399C>A	ENST00000639409.1:p.Ser133Arg
	ENST00000639548.1:c.-52+108C>A
	ENST00000639916.1:c.357C>A	ENST00000639916.1:p.Ser119Arg
	ENST00000640125.1:c.-52+108C>A
	ENST00000640368.2:c.399C>A	ENST00000640368.2:p.Ser133Arg
	ENST00000640610.1:c.357C>A	ENST00000640610.1:p.Ser119Arg
	ENST00000640684.1:c.399C>A	ENST00000640684.1:p.Ser133Arg
	ENST00000640975.1:c.399C>A	ENST00000640975.1:p.Ser133Arg
	ENST00000643871.1:c.357C>A	ENST00000643871.1:p.Ser119Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-08-01	no assertion criteria provided	aniridia 1	germline	Detail
Likely pathogenic	2023-01-20	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.399C>A (p.Ser133Arg) AND Aniridia 1	ClinVar	Detail
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) 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: rs121907928 dbSNP
Genome: hg38
Position: chr11:31,801,561-31,801,561
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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