Variant #0000400819 (NC_000006.11:g.52288946A>G, EFHC1(NM_018100.3):c.266A>G)

Individual ID 00177036
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.52288946A>G
DNA change (hg38) g.52424148A>G
Published as His89Arg
ISCN -
DB-ID EFHC1_000028
Variant remarks -
Reference PubMed: Raju 2017, Journal: Raju 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/480 cases JME
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Sourav Nayak
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 +/. 2 c.266A>G r.(?) p.(His89Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177932 DNA SEQ - - EFHC1 1 Sourav Nayak