View genomic variant #0000025539

Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193884C>T
Published as -
GERP -
Segregation -
DB-ID C19orf12_000107
MSCV -
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 Lishuang Shen




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 0000025539 ./. - - c.161G>A - r.(?) p.(Gly54Glu) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000454138; RCV000454138; RCV000486662;
Chromosome 19:30193884..30193884
ClinVar Allele ID 389176
Disease database name and identifier Human Phenotype Ontology:HP:0001249, MedGen:C1843367|Human Phenotype Ontology:HP:0001263, MedGen:C0557874|MedGen:CN517202
ClinVar preferred disease name Intellectual disability|Global developmental delay|not provided
HGVS variant names NC 000019.9:g.30193884C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 752450983
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000754614;
Chromosome 19:30193884..30193884
ClinVar Allele ID 608843
Disease database name and identifier MedGen:C2680446, OMIM:615043|MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560
ClinVar preferred disease name Spastic paraplegia 43, autosomal recessive|Neurodegeneration with brain iron accumulation 4
HGVS variant names NC 000019.9:g.30193884C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 752450983
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