Variant #0000400844 (NC_000006.11:g.52357072T>G, EFHC1(NM_018100.3):c.1856T>G)

Individual ID 00177061
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.52357072T>G
DNA change (hg38) g.52492274T>G
Published as Ile619Ser
ISCN -
DB-ID EFHC1_000047
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) 0.00016 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 +/. 11 c.1856T>G r.(?) p.(Ile619Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177957 DNA SEQ - - EFHC1 1 Sourav Nayak