View genomic variant #0000018698

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193840G>A
Published as -
GERP -
Segregation -
DB-ID C19orf12_000065
MSCV MSCV_0018698
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 0000018698 ./. - - c.205C>T - r.(?) p.(Gln69*) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000502393; RCV000488270;
Chromosome 19:30193840..30193840
ClinVar Allele ID 413502
Disease database name and identifier MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560|MedGen:CN517202
ClinVar preferred disease name Neurodegeneration with brain iron accumulation 4|not provided
HGVS variant names NC 000019.9:g.30193840G>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
Variant clinical sources reported OMIM Allelic Variant:614297.0012
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 1064797235
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession ;
Chromosome :..
ClinVar Allele ID 624087
Disease database name and identifier MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560
ClinVar preferred disease name Neurodegeneration with brain iron accumulation 4
HGVS variant names NC 000019.9:g.30193845 30193855del
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:614297.0010
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001582|initiatior codon variant, SO:0001589|frameshift variant
Allele origin germline
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