Genomic variant #0000000005

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.10042629G>T
Published as -
GERP 3.100
Segregation -
DB-ID NMNAT1_000001
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 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.710G>T p.(Arg237Leu) missense_variant - 5/5 possibly_damaging(0.758) r.(?) deleterious(0)
NMNAT1 XR_244792.1 ?/? n.807G>T - - - - - - -


ClinVar @ MSeqDR

0.00003
361577
MedGen:CN517202
not provided
HGVS variant names NC 000001.10:g.10042629G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. NMNAT1:64802
SO:0001583|missense variant
1
dbSNP ID 368062092
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.0001
45799
MedGen:C1837873,OMIM:608553
Leber congenital amaurosis 9
HGVS variant names NC 000001.10:g.10042629G>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608700.0007|UniProtKB (protein):Q9HAN9#VAR 068879
Gene symbol:Gene id. NMNAT1:64802
SO:0001583|missense variant
1
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