Variant #0000665334 (NC_000005.9:g.137206519C>T, MYOT(NM_006790.2):c.179C>T)

Individual ID 00301097
Chromosome 5
Allele Unknown
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.137206519C>T
DNA change (hg38) g.137870830C>T
Published as -
ISCN -
DB-ID MYOT_000008 See all 27 reported entries
Variant remarks ACMG grading: PS4,PM2,PP3; Orlacchio et al. 2011. J Neurol 258: 1361; Magariello et al. 2012. Nuscle 45: 919
Reference -
ClinVar ID -
dbSNP ID rs121908458
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYOT NM_006790.2 +?/. - c.179C>T r.(?) p.(Ser60Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000302219 DNA SEQ-NG-S - - - 1 Andreas Laner