View genomic variant #0000018700

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193873C>T
Published as -
GERP -
Segregation -
DB-ID C19orf12_000005 See all 3 reported entries
MSCV MSCV_0000767
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
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)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
C19orf12 00003109 NM_031448.4 0000018700 ./. - - c.172G>A - r.(?) p.(Gly58Arg) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000414809; RCV000414809; RCV000414809; RCV000024153; RCV000414809; RCV000528859; RCV000414809;
Chromosome 19:30193873..30193873
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 40114
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: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 43, autosomal recessive|Neurodegeneration with brain iron accumulation 4
HGVS variant names NC 000019.9:g.30193873C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Centre for Mendelian Genomics, University Medical Centre Ljubljana:CMGVARID00297|OMIM Allelic Variant:614297.0003|UniProtKB (protein):Q9NSK7#VAR 066620
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 515726205
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