View genomic variant #0000000004

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.10042538C>T
Published as -
GERP 2.950
Segregation -
DB-ID NMNAT1_000006
MSCV MSCV_0010004
dbSNP ID rs142968179
Frequency -
Sources ; clinvar; ensembl;
Reference 22842229;22842230
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00015 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     
NMNAT1 00003156 NM_022787.3 0000000004 +/+ c.619C>T p.(Arg207Trp) missense_variant - 5/5 benign(0.025) r.(?) tolerated(0.07)
NMNAT1 00003345 XR_244792.1 0000000004 +/+ n.716C>T - - - - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000030764;
Chromosome 1:10042538..10042538
Allele frequencies from ESP 0.0002
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 45794
Disease database name and identifier MedGen:C1837873, OMIM:608553
ClinVar preferred disease name Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10042538C>T
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:608700.0005|UniProtKB (protein):Q9HAN9#VAR 068876
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 142968179
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs14296817911004253810042538C/TUniprot phenotype variantsLEBER CONGENITAL AMAUROSIS 9