Variant #0000400813 (NC_000006.11:g.52317574G>A, EFHC1(NM_018100.3):c.662G>A)

Individual ID 00177030
Chromosome 6
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.52317574G>A
DNA change (hg38) g.52452776G>A
Published as -
ISCN -
DB-ID EFHC1_000024 See all 2 reported entries
Variant remarks allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance)
Reference PubMed: Suzuki 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00188 View details
Owner Johan den Dunnen
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     
EFHC1 NM_018100.3 ?/. - c.662G>A r.(?) p.(Arg221His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177926 DNA SEQ - - EFHC1 2 Johan den Dunnen