chr11:31815620:C>G Detail (hg19) (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	chr11:31,815,620-31,815,620
hg38	chr11:31,794,072-31,794,072 View the variant detail on this assembly version.

HGVS

PAX6

Type	Transcript	Protein
RefSeq	NM_000280.4:c.767G>C	NP_000271.1:p.Arg256Thr
	NM_001258464.1:c.767G>C	NP_001245393.1:p.Arg256Thr
	NM_001258463.1:c.767G>C	NP_001245392.1:p.Arg256Thr
	NM_001310160.1:c.317G>C	NP_001297089.1:p.Arg106Thr
	NM_001127612.1:c.725G>C	NP_001121084.1:p.Arg242Thr
	NM_001258465.1:c.725G>C	NP_001245394.1:p.Arg242Thr
	NM_001604.5:c.767G>C	NP_001595.2:p.Arg256Thr
	NM_001310161.1:c.317G>C	NP_001297090.1:p.Arg106Thr
	NM_001310159.1:c.725G>C	NP_001297088.1:p.Arg242Thr
	NM_001310158.1:c.767G>C	NP_001297087.1:p.Arg256Thr
Ensemble	ENST00000638755.1:c.617G>C	ENST00000638755.1:p.Arg206Thr
	ENST00000638914.3:c.767G>C	ENST00000638914.3:p.Arg256Thr
	ENST00000638696.1:c.659G>C	ENST00000638696.1:p.Arg220Thr
	ENST00000638685.1:c.212G>C	ENST00000638685.1:p.Arg71Thr
	ENST00000640368.2:c.767G>C	ENST00000640368.2:p.Arg256Thr
	ENST00000639409.1:c.767G>C	ENST00000639409.1:p.Arg256Thr
	ENST00000640684.1:c.767G>C	ENST00000640684.1:p.Arg256Thr
	ENST00000639386.2:c.317G>C	ENST00000639386.2:p.Arg106Thr
	ENST00000638629.1:c.317G>C	ENST00000638629.1:p.Arg106Thr
	ENST00000379107.7:c.767G>C	ENST00000379107.7:p.Arg256Thr
	ENST00000241001.13:c.725G>C	ENST00000241001.13:p.Arg242Thr
	ENST00000379109.7:c.725G>C	ENST00000379109.7:p.Arg242Thr
	ENST00000639916.1:c.725G>C	ENST00000639916.1:p.Arg242Thr
	ENST00000419022.6:c.767G>C	ENST00000419022.6:p.Arg256Thr
	ENST00000481563.6:c.317G>C	ENST00000481563.6:p.Arg106Thr
	ENST00000643871.1:c.725G>C	ENST00000643871.1:p.Arg242Thr
	ENST00000379132.8:c.725G>C	ENST00000379132.8:p.Arg242Thr
	ENST00000606377.7:c.767G>C	ENST00000606377.7:p.Arg256Thr
	ENST00000638963.1:c.725G>C	ENST00000638963.1:p.Arg242Thr
	ENST00000639034.2:c.725G>C	ENST00000639034.2:p.Arg242Thr
	ENST00000638965.1:c.122G>C	ENST00000638965.1:p.Arg41Thr
	ENST00000379129.7:c.767G>C	ENST00000379129.7:p.Arg256Thr
	ENST00000639548.1:c.317G>C	ENST00000639548.1:p.Arg106Thr
	ENST00000640610.1:c.725G>C	ENST00000640610.1:p.Arg242Thr
	ENST00000640125.1:c.317G>C	ENST00000640125.1:p.Arg106Thr
	ENST00000640975.1:c.767G>C	ENST00000640975.1:p.Arg256Thr

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-06-01	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.767G>C (p.Arg256Thr) 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: rs121907927 dbSNP
Genome: hg19
Position: chr11:31,815,620-31,815,620
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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