Genomic variant #0000000004

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10042538C>T
Published as -
GERP 2.950
Segregation -
DB-ID NMNAT1_000006
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NMNAT1 NM_022787.3 +/+ c.619C>T p.(Arg207Trp) missense_variant - 5/5 benign(0.025) r.(?) tolerated(0.07)
NMNAT1 XR_244792.1 +/+ n.716C>T - - - - - - -


ClinVar @ MSeqDR

0.0002
0.00002
45794
MedGen:C1837873,OMIM:608553
Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10042538C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608700.0005|UniProtKB (protein):Q9HAN9#VAR 068876
Gene symbol:Gene id. NMNAT1:64802
SO:0001583|missense variant
1
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