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 -
Average frequency (large NGS studies) 0.001 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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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 0000001576 +?/+? c.37G>A p.? missense_variant - 2/5 probably_damaging(1) r.? deleterious(0)
NMNAT1 00003345 XR_244792.1 0000001576 +?/+? n.134G>A - - - - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000175940;
Chromosome 1:10032168..10032168
Allele frequencies from ESP 0.0010
Allele frequencies from ExAC 0.00021
Allele frequencies from TGP 0.0012
ClinVar Allele ID 192536
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.10032168G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):Q9HAN9#VAR 068857
Gene symbol:Gene id. NMNAT1:64802
Molecular consequence SO:0001583|missense variant
Allele origin germline
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