Variant #0000646768 (NC_000014.8:g.23901898G>A, MYH7(NM_000257.2):c.452C>T)

Individual ID 00288976
Chromosome 14
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.23901898G>A
DNA change (hg38) g.23432689G>A
Published as -
ISCN -
DB-ID MYH7_001049
Variant remarks -
Reference PubMed: Punetha 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/94 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
MYH7 NM_000257.2 +?/. - c.452C>T r.(?) p.(Pro151Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290144 DNA SEQ;SEQ-NG - gene panel MYH7 1 Johan den Dunnen