View genomic variant #0000001018

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.52942175del
Published as -
GERP 6.060
Segregation -
DB-ID NDUFS4_000003 See all 2 reported entries
MSCV MSCV_0001018
dbSNP ID rs121908985
Frequency -
Sources ; clinVar; Ensembl;
Reference 10944442
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     
NDUFS4 00000213 NM_002495.2 0000001018 +?/+? - - c.290del p.(Trp97*) - - - -
NDUFS4 00000212 XM_005248525.1 0000001018 +?/+? - - c.290del p.(Trp97*) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000007291; RCV000484109;
Chromosome 5:52942175..52942175
ClinVar Allele ID 21927
Disease database name and identifier MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010|MedGen:CN517202
ClinVar preferred disease name Mitochondrial complex I deficiency, nuclear type 1|not provided
HGVS variant names NC 000005.9:g.52942176del
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:602694.0002
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 121908985
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