View genomic variant #0000001576

Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10032168G>A
Published as -
GERP 3.920
Segregation -
DB-ID NMNAT1_000009
dbSNP ID rs138613460
Frequency -
Sources ; ensembl;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.001 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.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0)
NMNAT1 XR_244792.1 +?/+? n.134G>A - - - - - - -


ClinVar @ MSeqDR

0.0010
0.00021
0.0012
192536
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.10032168G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):Q9HAN9#VAR 068857
Gene symbol:Gene id. NMNAT1:64802
SO:0001583|missense variant
1
dbSNP ID 138613460
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
rs13861346011003216810032168G/AA0.0009Uniprot phenotype variantsLEBER CONGENITAL AMAUROSIS 9