View genomic variant #0000000770

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30199200C>G
Published as -
GERP -1.450
Segregation -
DB-ID C19orf12_000003
MSCV MSCV_0000770
dbSNP ID -
Frequency -
Sources ;
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 0000000770 ?/? - 1/2 c.121G>C - r.(?) p.(Val41Leu) benign(0.02) missense_variant - tolerated(0.56)
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ClinVar @ MSeqDR

RCVaccession RCV000550717;
Chromosome 19:30199200..30199200
Allele frequencies from ESP 0.00033
Allele frequencies from ExAC 0.00014
Allele frequencies from TGP 0.00040
ClinVar Allele ID 469533
Disease database name and identifier MedGen:C2680446, OMIM:615043, Orphanet:ORPHA320370
ClinVar preferred disease name Spastic paraplegia 43, autosomal recessive
HGVS variant names NC 000019.9:g.30199200C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
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:0001627|intron variant
Allele origin germline
dbSNP ID 148797643
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