Variant #0000552396 (NC_000014.8:g.23902351A>T, MYH7(NM_000257.2):c.287T>A)

Chromosome 14
Allele Unknown
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.23902351A>T
DNA change (hg38) g.23433142A>T
Published as MYH7(NM_000257.2):c.287T>A (p.L96Q)
ISCN -
DB-ID MYH7_001014 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 +/. - c.287T>A r.(?) p.(Leu96Gln)