View genomic variant #0000000852

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.207011673G>C
Published as -
GERP 4.820
Segregation -
DB-ID NDUFS1_000005 See all 2 reported entries
MSCV MSCV_0000852
dbSNP ID rs199422226
Frequency -
Sources ; clinVar; Ensembl;
Reference 15824269
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFS1 00000204 NM_001199981.1 0000000852 +/+ - 7/18 c.583C>G p.(Leu195Val) probably_damaging(0.999) missense_variant - deleterious(0)
NDUFS1 00000202 NM_001199982.1 0000000852 +/+ - 5/16 c.358C>G p.(Leu120Val) probably_damaging(0.999) missense_variant - deleterious(0)
NDUFS1 00000203 NM_001199983.1 0000000852 +/+ - 7/18 c.520C>G p.(Leu174Val) probably_damaging(0.999) missense_variant - deleterious(0)
NDUFS1 00000206 NM_001199984.1 0000000852 +/+ - 8/19 c.733C>G p.(Leu245Val) probably_damaging(0.999) missense_variant - deleterious(0)
NDUFS1 00000205 NM_005006.6 0000000852 +/+ - 8/19 c.691C>G p.(Leu231Val) probably_damaging(0.999) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000015301; RCV002251906;
Chromosome 2:207011673..207011673
ClinVar Allele ID 29272
Disease database name and identifier .|MONDO:MONDO:0032610, MedGen:C4748754, OMIM:618226
ClinVar preferred disease name See cases|Mitochondrial complex 1 deficiency, nuclear type 5
HGVS variant names NC 000002.11:g.207011673G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:157655.0004
Gene symbol:Gene id. NDUFS1:4719
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 199422226
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