View genomic variant #0000000764

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193654T>C
Published as -
GERP 2.960
Segregation -
DB-ID C19orf12_000007 See all 2 reported entries
MSCV MSCV_0000764
dbSNP ID rs146170087
Frequency -
Sources ; clinVar; Ensembl;
Reference 21981780
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00123 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

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Variant ID     

Affects function     

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DNA change (cDNA)     

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RNA change     

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PolyPhen     

GVS function     

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SIFT     
C19orf12 00003109 NM_031448.4 0000000764 +/+ - 3/3 c.391A>G - r.(?) p.(Lys131Glu) benign(0.138) missense_variant - deleterious(0.03)
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ClinVar @ MSeqDR

RCVaccession RCV000415210; RCV000415210; RCV000415210; RCV000024154; RCV000509226; RCV000415210; RCV000509226; RCV000553096; RCV000714889; RCV000415210;
Chromosome 19:30193654..30193654
Allele frequencies from ESP 0.00123
Allele frequencies from ExAC 0.00244
Allele frequencies from TGP 0.00220
ClinVar Allele ID 40115
Disease database name and identifier Human Phenotype Ontology:HP:0001268, MedGen:C0234985|Human Phenotype Ontology:HP:0001332, MedGen:C0013421|Human Phenotype Ontology:HP:0001337, MedGen:C0040822|Human Phenotype Ontology:HP:0007830, MedGen:C4024790|Human Phenotype Ontology:HP:0007994, MedGen:C0241688|MedGen:C1849115, OMIM:270800, Orphanet:ORPHA100986|MedGen:C2680446, OMIM:615043|MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560
ClinVar preferred disease name Mental deterioration|Dystonia|Tremor|Adult-onset night blindness|Peripheral visual field loss|Spastic paraplegia 5A|Spastic paraplegia 43, autosomal recessive|Neurodegeneration with brain iron accumulation 4
HGVS variant names NC 000019.9:g.30193654T>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(1)%3BPathogenic(1)%3BUncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Centre for Mendelian Genomics, University Medical Centre Ljubljana:CMGVARID00296|OMIM Allelic Variant:614297.0004
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001624|3 prime UTR variant
Allele origin
dbSNP ID 146170087
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
rs146170087193019365430193654T/CUniprot phenotype variantsNeurodegeneration with brain iron accumulation type 4
rs146170087193019365430193654T/CUniprot phenotype variantsNeurodegeneration with brain iron accumulation 4