View genomic variant #0000001461

Chromosome M
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.10563T>C
Published as -
GERP 5.070
Segregation -
DB-ID chrM_000202 See all 2 reported entries
MSCV MSCV_0001461
dbSNP ID rs267606892
Frequency -
Sources ; clinVar; Ensembl;
Reference 13298683;9806551
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.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-ND4L 00001342 MT-ND4L-201 0000001461 +/+ - . c.94T>C p.C32R - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000010352;
Chromosome M:10563..10563
ClinVar Allele ID 24745
Disease database name and identifier MONDO:MONDO:0023113, MedGen:CN280943
ClinVar preferred disease name Familial colorectal cancer
HGVS variant names NC 012920.1:m.10563T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA250589|OMIM:516004.0001
Gene symbol:Gene id. MT-ND4L:4539
Allele origin germline
dbSNP ID 267606892
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