View genomic variant #0000001181

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30886663G>A
Published as -
GERP 4.780
Segregation -
DB-ID VARS2_000001 See all 2 reported entries
MSCV MSCV_0001181
dbSNP ID NA
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

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
VARS2 00001291 NM_001167733.1 0000001181 ./. - 10/29 c.625G>A p.(Ala209Thr) probably_damaging(0.999) missense_variant - deleterious(0)
VARS2 00001292 NM_001167734.1 0000001181 ./. - 11/30 c.1135G>A p.(Ala379Thr) probably_damaging(0.995) missense_variant - deleterious(0)
VARS2 00001290 NM_020442.4 0000001181 ./. - 11/30 c.1045G>A p.(Ala349Thr) probably_damaging(0.999) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000129933;
Chromosome 6:30886663..30886663
ClinVar Allele ID 151138
Disease database name and identifier MONDO:MONDO:0014397, MedGen:C4014660, OMIM:615917, Orphanet:ORPHA420728
ClinVar preferred disease name Combined oxidative phosphorylation deficiency 20
HGVS variant names NC 000006.11:g.30886663G>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612802.0001
Gene symbol:Gene id. VARS2:57176
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 587777583
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