View genomic variant #0000016784

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.85346713del
Published as -
GERP -
Segregation -
DB-ID TMEM126B_000002
MSCV MSCV_0016784
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

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     
TMEM126B 00001216 NM_001193537.2 0000016784 ./. - - c.340del p.(Asn114Ilefs*2) - - - -
TMEM126B 00001218 NM_001193538.2 0000016784 ./. - - c.310del p.(Asn104Ilefs*2) - - - -
TMEM126B 00001217 NM_001256546.1 0000016784 ./. - - c.310del p.(Asn104Ilefs*2) - - - -
TMEM126B 00001220 NM_001256547.1 0000016784 ./. - - c.262del p.(Asn88Ilefs*2) - - - -
TMEM126B 00001219 NM_018480.4 0000016784 ./. - - c.400del p.(Asn134Ilefs*2) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000239553; RCV000240613;
Chromosome 11:85346713..85346713
ClinVar Allele ID 237763
Disease database name and identifier MONDO:MONDO:0032633, MedGen:C4748830, OMIM:618250|MONDO:MONDO:0044970, MedGen:C0751651, Orphanet:ORPHA68380
ClinVar preferred disease name Mitochondrial complex 1 deficiency, nuclear type 29|Mitochondrial disease
HGVS variant names NC 000011.9:g.85346714del
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:615533.0004
Gene symbol:Gene id. TMEM126B:55863
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 886037835
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