View genomic variant #0000000886

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.233633488G>A
Published as -
GERP 2.730
Segregation -
DB-ID GIGYF2_000003
MSCV MSCV_0000886
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
GIGYF2 00003175 NM_001103146.1 0000000886 ?/? c.532+7342G>A p.(=) - - - - r.(=) -
KCNJ13 00003176 NM_002242.4 0000000886 ?/? c.496C>T p.(Arg166*) stop_gained - 3/3 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023266;
Chromosome 2:233633488..233633488
ClinVar Allele ID 39287
Disease database name and identifier MedGen:C3280062, OMIM:614186
ClinVar preferred disease name Leber congenital amaurosis 16
HGVS variant names NC 000002.11:g.233633488G>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:603208.0002
Gene symbol:Gene id. KCNJ13:3769|GIGYF2:26058
Molecular consequence SO:0001583|missense variant, SO:0001587|nonsense
Allele origin germline
dbSNP ID 387906858
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None