Variant #0000763093 (NC_000001.10:g.237058770C>T, MTR(NM_000254.2):c.3518C>T)

Individual ID 00361491
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.237058770C>T
DNA change (hg38) g.236895470C>T
Published as -
ISCN -
DB-ID MTR_000067 See all 3 reported entries
Variant remarks ACMG PS1, PM2, PP1, PP2
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 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.3518C>T r.(?) p.(Pro1173Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362719 DNA SEQ-NG - WES MTR 1 Johan den Dunnen