View genomic variant #0000000993

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.17506027C>T
Published as -
GERP 5.500
Segregation -
DB-ID QDPR_000002
MSCV MSCV_0000993
dbSNP ID rs104893867
Frequency -
Sources ;
Reference 11153907
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
QDPR 00002711 NM_000320.2 0000000993 ?/? - 3/7 c.270G>A p.(Trp90*) - stop_gained - -
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ClinVar @ MSeqDR

RCVaccession RCV000000524;
Chromosome 4:17506027..17506027
ClinVar Allele ID 15534
Disease database name and identifier MONDO:MONDO:0009862, MedGen:C0268465, OMIM:261630, Orphanet:ORPHA226, SNOMED CT:58256000
ClinVar preferred disease name Dihydropteridine reductase deficiency
HGVS variant names NC 000004.11:g.17506027C>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:612676.0007
Gene symbol:Gene id. QDPR:5860
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 104893867
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
rs10489386741750602717506027C/TOMIM phenotype variantsHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
rs10489386741750602717506027C/TOMIM phenotype variantsDihydropteridine reductase deficiency
CM00305541750602717506027HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available