View genomic variant #0000000885

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.233633262A>T
Published as -
GERP 6.070
Segregation -
DB-ID GIGYF2_000002
MSCV MSCV_0000885
dbSNP ID rs143607153
Frequency -
Sources ;
Reference 21763485
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00031 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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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 0000000885 ./. c.532+7116A>T p.(=) - - - - r.(=) -
KCNJ13 00003176 NM_002242.4 0000000885 ./. c.722T>A p.(Leu241Gln) missense_variant - 3/3 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000023267;
Chromosome 2:233633262..233633262
ClinVar Allele ID 39288
Disease database name and identifier MedGen:C3280062, OMIM:614186
ClinVar preferred disease name Leber congenital amaurosis 16
HGVS variant names NC 000002.11:g.233633262A>G
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:603208.0003|UniProtKB (protein):O60928#VAR 066490
Gene symbol:Gene id. KCNJ13:3769|GIGYF2:26058
Molecular consequence SO:0001583|missense variant, SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 143607153
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