View genomic variant #0000022906

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221801T>A
Published as -
GERP -
Segregation -
DB-ID SURF1_000008
MSCV MSCV_0022906
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

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
SURF1 00000317 NM_001280787.1 0000022906 ./. - - c.-210A>T p.(=) - - - -
SURF1 00000318 NM_003172.3 0000022906 ./. - - c.118A>T p.(Arg40Trp) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000555174; RCV003258856;
Chromosome 9:136221801..136221801
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 459614
Disease database name and identifier MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Inborn genetic diseases|Leigh syndrome
HGVS variant names NC 000009.11:g.136221801T>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA200833558
Gene symbol:Gene id. SURF1:6834
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 781831910
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