chr11:31815627:G>A Detail (hg19) (PAX6)

Information

Genome

Assembly Position
hg19 chr11:31,815,627-31,815,627
hg38 chr11:31,794,079-31,794,079 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001604.5:c.760C>T NP_001595.2:p.Arg254Ter
NM_001127612.1:c.718C>T NP_001121084.1:p.Arg240Ter
NM_001310161.1:c.310C>T NP_001297090.1:p.Arg104Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic aniridia germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-08-15 criteria provided, single submitter aniridia 1 de novo germline inherited unknown Detail
Pathogenic 2022-05-26 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-03 criteria provided, single submitter Irido-corneo-trabecular dysgenesis,aniridia 1 germline Detail
Pathogenic 2023-10-03 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
0.606 aniridia The internal control was from a girl with typical aniridia and an identified c.7... BeFree 20057906 Detail
0.606 aniridia Paired box 6 (PAX6) deficiency, both in aniridia patients with a heterozygous PA... BeFree 19034419 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) AND Aniridia 1 ClinVar Detail
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) AND not provided ClinVar Detail
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) AND multiple conditions ClinVar Detail
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) m... DisGeNET Detail
Paired box 6 (PAX6) deficiency, both in aniridia patients with a heterozygous PAX6 R240Stop mutation... 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
rs121907917 dbSNP
Genome
hg19
Position
chr11:31,815,627-31,815,627
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser