View genomic variant #0000005208

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.30199197C>T
Published as -
GERP 5.030
Segregation -
DB-ID C19orf12_000010 See all 3 reported entries
MSCV MSCV_0005208
dbSNP ID rs200133991
Frequency -
Sources ; ensembl;
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 0000005208 ./. - 1/2 c.124G>A - r.(?) p.(Gly42Arg) probably_damaging(0.947) missense_variant - deleterious(0.03)
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ClinVar @ MSeqDR

RCVaccession RCV000162119; RCV000516097; RCV000162119; RCV000292174;
Chromosome 19:30199197..30199197
Allele frequencies from ExAC 0.00002
Allele frequencies from TGP 0.00020
ClinVar Allele ID 181460
Disease database name and identifier Human Phenotype Ontology:HP:0002180, MedGen:C0027746|MedGen:C0037773, Orphanet:ORPHA685, SNOMED CT:39912006|MedGen:CN228270|MedGen:CN517202
ClinVar preferred disease name Neurodegeneration|Hereditary spastic paraplegia|Brain iron accummulation|not provided
HGVS variant names NC 000019.9:g.30199197C>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 UniProtKB (protein):Q9NSK7#VAR 066618
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin
dbSNP ID 200133991
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
rs200133991193019919730199197C/TT0.0005Uniprot phenotype variantsNeurodegeneration with brain iron accumulation 4