View genomic variant #0000000992

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.17503456A>C
Published as -
GERP 5.650
Segregation -
DB-ID QDPR_000001
MSCV MSCV_0000992
dbSNP ID rs104893864
Frequency -
Sources ;
Reference 8326489
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 0000000992 ?/? - 4/7 c.322T>G p.(Trp108Gly) benign(0.328) missense_variant - tolerated(0.07)
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ClinVar @ MSeqDR

RCVaccession RCV000000520;
Chromosome 4:17503456..17503456
ClinVar Allele ID 15530
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.17503456A>C
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:612676.0003|UniProtKB (protein):P09417#VAR 006963
Gene symbol:Gene id. QDPR:5860
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 104893864
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
rs10489386441750345617503456A/COMIM phenotype variantsHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
rs10489386441750345617503456A/COMIM phenotype variantsDihydropteridine reductase deficiency
CM93063341750345617503456HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available