View genomic variant #0000018690

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193653T>G
Published as -
GERP -
Segregation -
DB-ID C19orf12_000033
MSCV MSCV_0018690
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00062 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

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 0000018690 ./. - - c.392A>C - r.(?) p.(Lys131Thr) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000356548; RCV000460848; RCV000116508;
Chromosome 19:30193653..30193653
Allele frequencies from ESP 0.00062
Allele frequencies from ExAC 0.01424
Allele frequencies from TGP 0.02416
ClinVar Allele ID 133987
Disease database name and identifier MedGen:C2680446, OMIM:615043|MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560|MedGen:CN169374
ClinVar preferred disease name Spastic paraplegia 43, autosomal recessive|Neurodegeneration with brain iron accumulation 4|not specified
HGVS variant names NC 000019.9:g.30193653T>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:81635|UniProtKB (protein):Q9NSK7#VAR 066622
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 79915936
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