Variant #0000154445 (NC_000006.11:g.52329740G>A, EFHC1(NM_018100.3):c.964G>A)

Individual ID 00095424
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.52329740G>A
DNA change (hg38) g.52464942G>A
Published as 965G>A
ISCN -
DB-ID EFHC1_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anuranjan Anand
Database submission license No license selected
Created by Anuranjan Anand
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFHC1 NM_018100.3 +?/. 6 c.964G>A r.(?) p.(Glu322Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095824 DNA SEQ Blood - EFHC1 1 Anuranjan Anand