View genomic variant #0000000006

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.10042688G>A
Published as -
GERP 5.010
Segregation -
DB-ID NMNAT1_000002
MSCV MSCV_0010006
dbSNP ID rs150726175
Frequency -
Sources ; clinvar; ensembl;
Reference 22842231;22842229;20301475;22842227;22842230
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00108 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 0000000006 +/+ c.769G>A p.(Glu257Lys) missense_variant - 5/5 benign(0.037) r.(?) tolerated(0.24)
NMNAT1 00003345 XR_244792.1 0000000006 +/+ n.866G>A - - - - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000504859; RCV000030765; RCV000255806;
Chromosome 1:10042688..10042688
Allele frequencies from ESP 0.0011
Allele frequencies from ExAC 0.00061
Allele frequencies from TGP 0.0002
ClinVar Allele ID 45795
Disease database name and identifier MeSH:D057130, MedGen:C0339527, Orphanet:ORPHA65, SNOMED CT:193413001|MedGen:C1837873, OMIM:608553|MedGen:CN517202
ClinVar preferred disease name Leber congenital amaurosis|Leber congenital amaurosis 9|not provided
HGVS variant names NC 000001.10:g.10042688G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608700.0002|UniProtKB (protein):Q9HAN9#VAR 068882
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 150726175
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
rs15072617511004268810042688G/AA0.0005OMIM phenotype variantsLEBER CONGENITAL AMAUROSIS 9