View genomic variant #0000018696

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.30193829C>T
Published as -
GERP -
Segregation -
DB-ID C19orf12_000064
MSCV MSCV_0018696
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 0000018696 ./. - - c.216G>A - r.(=) p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000298293; RCV000231698; RCV000425676;
Chromosome 19:30193829..30193829
Allele frequencies from ExAC 0.00055
Allele frequencies from TGP 0.00020
ClinVar Allele ID 243317
Disease database name and identifier MedGen:C2680446, OMIM:615043, Orphanet:ORPHA320370|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.30193829C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(1)%3BLikely benign(1)%3BUncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:767964
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 202054484
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