chr11:31790862:T>C Detail (hg38) (PAX6)

Information

Genome

Assembly Position
hg19 chr11:31,812,410-31,812,410 View the variant detail on this assembly version.
hg38 chr11:31,790,862-31,790,862

HGVS

Type Transcript Protein
RefSeq NM_001127612.1:c.1033-2A>G
NM_001604.5:c.1075-2A>G
NM_001310161.1:c.625-2A>G
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
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 1995-01-01 no assertion criteria provided aniridia 1 germline Detail
Pathogenic 2016-12-09 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter aniridia 1,Irido-corneo-trabecular dysgenesis germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter aniridia 1,Irido-corneo-trabecular dysgenesis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.606 aniridia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001368894.2(PAX6):c.1075-2A>G AND Aniridia 1 ClinVar Detail
NM_001368894.2(PAX6):c.1075-2A>G AND not provided ClinVar Detail
NM_001368894.2(PAX6):c.1075-2A>G AND multiple conditions ClinVar Detail
NM_001368894.2(PAX6):c.1075-2A>G AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs794726661 dbSNP
Genome
hg38
Position
chr11:31,790,862-31,790,862
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser