Variant #0000733510 (NC_000001.10:g.236978932_236978933del, MTR(NM_000254.2):c.638_639del)

Individual ID 00334275
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.236978932_236978933del
DNA change (hg38) g.236815632_236815633del
Published as 635_636delTT
ISCN -
DB-ID MTR_000073
Variant remarks -
Reference PubMed: Stone 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTR NM_000254.2 +?/. - c.638_639del r.(?) p.(Phe213*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335501 DNA SEQ-NG - - MTR 1 LOVD