Variant #0000175184 (NC_000014.8:g.23902781C>A, MYH7(NM_000257.2):c.161G>T)

Individual ID 00108649
Chromosome 14
Allele Parent #1
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.23902781C>A
DNA change (hg38) g.23433572C>A
Published as -
ISCN -
DB-ID MYH7_000403
Variant remarks -
Reference PubMed: Cecconi 2016, Journal: Cecconi 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Domenico Coviello
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     
MYH7 NM_000257.2 +?/. 2 c.161G>T r.(?) p.(Arg54Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000109114 DNA SEQ-NG-I - - - 4 Domenico Coviello