Variant #0000400862 (NC_000006.11:g.52355206T>C, EFHC1(NM_018100.3):c.1851+58T>C)

Individual ID 00177079
Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52355206T>C
DNA change (hg38) g.52490408T>C
Published as -
ISCN -
DB-ID EFHC1_000045
Variant remarks -
Reference PubMed: Raju 2017, Journal: Raju 2017
ClinVar ID -
dbSNP ID rs2273120
Origin Germline
Segregation -
Frequency 434/480 cases JME
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 -/. 10i c.1851+58T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177975 DNA SEQ - - EFHC1 1 Johan den Dunnen