View genomic variant #0000000003

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10042376C>G
Published as -
GERP -6.280
Segregation -
DB-ID NMNAT1_000005
MSCV MSCV_0010003
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     
NMNAT1 00003156 NM_022787.3 0000000003 ?/? c.457C>G p.(Leu153Val) missense_variant - 5/5 probably_damaging(0.999) r.(?) deleterious(0)
NMNAT1 00003345 XR_244792.1 0000000003 ?/? n.554C>G - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000030770;
Chromosome 1:10042376..10042376
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 45800
Disease database name and identifier MedGen:C1837873, OMIM:608553
ClinVar preferred disease name Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10042376C>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:608700.0008|UniProtKB (protein):Q9HAN9#VAR 068870
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 387907293
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