Variant #0000079581 (NC_000001.10:g.236966848G>A, MTR(NM_000254.2):c.155G>A)

Individual ID 00050656
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.236966848G>A
DNA change (hg38) g.236803548G>A
Published as -
ISCN -
DB-ID MTR_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00409 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTR NM_000254.2 ./. - c.155G>A r.(?) p.(Arg52Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050601 DNA SEQ;SEQ-NG-I - - MTR 1 Johan den Dunnen