Genomic variant #0000000006

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10042688G>A
Published as -
GERP 5.010
Segregation -
DB-ID NMNAT1_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NMNAT1 NM_022787.3 +/+ c.769G>A p.(Glu257Lys) missense_variant - 5/5 benign(0.037) r.(?) tolerated(0.24)
NMNAT1 XR_244792.1 +/+ n.866G>A - - - - - - -


ClinVar @ MSeqDR

0.0011
0.00061
0.0002
45795
MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001|MedGen:C1837873,OMIM:608553|MedGen:CN517202
Leber congenital amaurosis|Leber congenital amaurosis 9|not provided
HGVS variant names NC 000001.10:g.10042688G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608700.0002|UniProtKB (protein):Q9HAN9#VAR 068882
Gene symbol:Gene id. NMNAT1:64802
SO:0001583|missense variant
1
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