Variant #0000400827 (NC_000006.11:g.52329832C>T, EFHC1(NM_018100.3):c.1056C>T)

Individual ID 00177044
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.52329832C>T
DNA change (hg38) -
Published as Arg353Trp
ISCN -
DB-ID EFHC1_000034 See all 4 reported entries
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
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) Variant not found in online data sets
Owner Sourav Nayak
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFHC1 NM_018100.3 +/. 6 c.1056C>T r.(?) p.(Arg353Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177940 DNA SEQ - - EFHC1 1 Sourav Nayak