Variant #0000086642 (NC_000011.9:g.17741517C>A, NM_002478.4:c.188C>A (MYOD1))

Individual ID 00056440
Chromosome 11
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.17741517C>A
DNA change (hg38) g.17719970C>A
Published as -
ISCN -
DB-ID MYOD1_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Watson 2016, Journal: Watson 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Christopher Watson
Database submission license No license selected
Created by Christopher Watson
Date created 2016-01-08 15:42:12 +01:00 (CET)
Date last edited 2016-01-09 02:50:43 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYOD1 NM_002478.4 +/. 1 c.188C>A r.(?) p.(Ser63*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056401 DNA SEQ;SEQ-NG - - MYOD1, OTOG 4 Christopher Watson


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