View genomic variant #0000004945

Chromosome M
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.8896G>A
Published as -
GERP 1.700
Segregation -
DB-ID chrM_001389 See all 2 reported entries
MSCV MSCV_0004945
dbSNP ID rs202120082
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)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-ATP6 00001337 MT-ATP6-201 0000004945 ?/? - . c.370G>A p.A124T - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000854357;
Chromosome M:8896..8896
ClinVar Allele ID 681553
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.8896G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 202120082
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