View genomic variant #0000001576

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) 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
MSCV MSCV_0001576
dbSNP ID rs138613460
Frequency -
Sources ; ensembl;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.001 View details
Owner LOVD

Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.


Transcript ID     


Variant ID     

Affects function     

DNA change (cDNA)     


GVS function     




RNA change     

NMNAT1 00003156 NM_022787.3 0000001576 +?/+? c.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0)
NMNAT1 00003345 XR_244792.1 0000001576 +?/+? n.134G>A - - - - - - -

ClinVar @ MSeqDR

RCVaccession RCV000175940; RCV001074101; RCV001256640;
Chromosome 1:10032168..10032168
Allele frequencies from ESP 0.00100
Allele frequencies from ExAC 0.00021
Allele frequencies from TGP 0.00120
ClinVar Allele ID 192536
Disease database name and identifier MedGen:C3661900|Human Phenotype Ontology:HP:0000556, Human Phenotype Ontology:HP:0007736, Human Phenotype Ontology:HP:0007910, Human Phenotype Ontology:HP:0007974, Human Phenotype Ontology:HP:0007982, MONDO:MONDO:0019118, MeSH:D058499, MedGen:C0854723, Orphanet:71862|MONDO:MONDO:0012056, MedGen:C1837873, OMIM:608553, Orphanet:65
ClinVar preferred disease name not provided|Retinal dystrophy|Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10032168G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1)|Likely pathogenic(3)|Uncertain significance(3)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA241796|UniProtKB:Q9HAN9#VAR 068857
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 138613460
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: