chr11:31789935:T>A Detail (hg38) (PAX6, ELP4)

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

Genome

Assembly	Position
hg19	chr11:31,811,483-31,811,483 View the variant detail on this assembly version.
hg38	chr11:31,789,935-31,789,935

HGVS

ELP4
PAX6

Type	Transcript	Protein
RefSeq	NM_019040.4:c.*6411T>A
Ensemble	ENST00000640961.2:c.*6411T>A

Type	Transcript	Protein
RefSeq	NM_001127612.1:c.1268A>T	NP_001121084.1:p.Ter423Leuext*?
	NM_001604.5:c.1310A>T	NP_001595.2:p.Ter437Leuext*?
	NM_001310161.1:c.860A>T	NP_001297090.1:p.Ter287Leuext*?
	NM_001310160.1:c.860A>T	NP_001297089.1:p.Ter287Leuext*?
	NM_000280.4:c.1310A>T	NP_000271.1:p.Ter437Leuext*?
	NM_001258464.1:c.1310A>T	NP_001245393.1:p.Ter437Leuext*?
	NM_001258463.1:c.1310A>T	NP_001245392.1:p.Ter437Leuext*?
	NM_001258465.1:c.1268A>T	NP_001245394.1:p.Ter423Leuext*?
	NM_001310158.1:c.1310A>T	NP_001297087.1:p.Ter437Leuext*?
Ensemble	ENST00000241001.13:c.1268A>T	ENST00000241001.13:p.Ter423Leuext*?
	ENST00000379107.7:c.1310A>T	ENST00000379107.7:p.Ter437Leuext*?
	ENST00000379109.7:c.1268A>T	ENST00000379109.7:p.Ter423Leuext*?
	ENST00000379129.7:c.1310A>T	ENST00000379129.7:p.Ter437Leuext*?
	ENST00000379132.8:c.1268A>T	ENST00000379132.8:p.Ter423Leuext*?
	ENST00000419022.6:c.1310A>T	ENST00000419022.6:p.Ter437Leuext*?
	ENST00000481563.6:c.860A>T	ENST00000481563.6:p.Ter287Leuext*?
	ENST00000606377.7:c.1310A>T	ENST00000606377.7:p.Ter437Leuext*?
	ENST00000638629.1:c.860A>T	ENST00000638629.1:p.Ter287Leuext*?
	ENST00000638685.1:c.604A>T	ENST00000638685.1:p.Lys202Ter
	ENST00000638696.1:c.1202A>T	ENST00000638696.1:p.Ter401Leuext*?
	ENST00000638755.1:c.1160A>T	ENST00000638755.1:p.Ter387Leuext*?
	ENST00000638914.3:c.1310A>T	ENST00000638914.3:p.Ter437Leuext*?
	ENST00000638963.1:c.1117A>T	ENST00000638963.1:p.Lys373Ter
	ENST00000638965.1:c.665A>T	ENST00000638965.1:p.Ter222Leuext*?
	ENST00000639386.2:c.860A>T	ENST00000639386.2:p.Ter287Leuext*?
	ENST00000639409.1:c.1310A>T	ENST00000639409.1:p.Ter437Leuext*?
	ENST00000639548.1:c.860A>T	ENST00000639548.1:p.Ter287Leuext*?
	ENST00000639916.1:c.1268A>T	ENST00000639916.1:p.Ter423Leuext*?
	ENST00000640125.1:c.860A>T	ENST00000640125.1:p.Ter287Leuext*?
	ENST00000640368.2:c.1310A>T	ENST00000640368.2:p.Ter437Leuext*?
	ENST00000640610.1:c.1268A>T	ENST00000640610.1:p.Ter423Leuext*?
	ENST00000640975.1:c.1310A>T	ENST00000640975.1:p.Ter437Leuext*?
	ENST00000643871.1:c.1268A>T	ENST00000643871.1:p.Ter423Leuext*?

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

ELP4
PAX6

Type	Database	ID	Link
Gene	MIM	606985	OMIM
	HGNC	1171	HGNC
	Ensembl	ENSG00000109911	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5739205	COSMIC
	MONDO

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	COSM5739205	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2019-08-15	criteria provided, conflicting interpretations	aniridia 1	de novo germline inherited unknown	Detail
Pathogenic Likely pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	autosomal dominant keratitis,foveal hypoplasia 1,aniridia 1,coloboma of optic nerve,Congenital ocular coloboma,Isolated optic nerve hypoplasia,Irido-corneo-trabecular dysgenesis,11p partial monosomy syndrome	unknown	Detail
no classifications from unflagged records		no classifications from unflagged records	Hypertelorism	de novo	Detail
Pathogenic	2023-11-24	criteria provided, single submitter	Irido-corneo-trabecular dysgenesis,aniridia 1	germline	Detail
Pathogenic	2023-11-24	criteria provided, single submitter	Irido-corneo-trabecular dysgenesis,aniridia 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.606	aniridia	NA	CLINVAR		Detail
<0.001	Photophobia	Abnormal cone ERGs in a family with congenital nystagmus and photophobia harbori...	BeFree	25555363	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND Aniridia 1	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND not provided	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutat...	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: rs121907922 dbSNP
Genome: hg38
Position: chr11:31,789,935-31,789,935
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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