Variant #0000271087 (NC_000006.11:g.52357010T>C, EFHC1(NM_018100.3):c.1852-58T>C)

Chromosome 6
Allele Unknown
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.52357010T>C
DNA change (hg38) g.52492212T>C
Published as EFHC1(NM_018100.4):c.1852-58T>C
ISCN -
DB-ID EFHC1_000021
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFHC1 NM_018100.3 -?/. - c.1852-58T>C r.(=) p.(=)