View genomic variant #0000000005

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.10042629G>T
Published as -
GERP 3.100
Segregation -
DB-ID NMNAT1_000001
MSCV MSCV_0010005
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




Variant on transcripts

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

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 0000000005 ?/? c.710G>T p.(Arg237Leu) missense_variant - 5/5 possibly_damaging(0.758) r.(?) deleterious(0)
NMNAT1 00003345 XR_244792.1 0000000005 ?/? n.807G>T - - - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000415779;
Chromosome 1:10042629..10042629
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 361577
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000001.10:g.10042629G>A
ClinVar review status no assertion criteria provided
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 368062092
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000030769;
Chromosome 1:10042629..10042629
Allele frequencies from ESP 0.0001
ClinVar Allele ID 45799
Disease database name and identifier MedGen:C1837873, OMIM:608553
ClinVar preferred disease name Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10042629G>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608700.0007|UniProtKB (protein):Q9HAN9#VAR 068879
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 368062092
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None