Variant #0000652012 (NC_000006.11:g.52343899T>C, EFHC1(NM_018100.3):c.1343T>C)

Individual ID 00294155
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52343899T>C
DNA change (hg38) g.52479101T>C
Published as -
ISCN -
DB-ID EFHC1_000039 See all 2 reported entries
Variant remarks 52 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs1266787
Origin Germline
Segregation -
Frequency 52/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03519 View details
Owner Mohammed Faruq
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 -?/. - c.1343T>C r.(?) p.(Met448Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295323 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq