Variant #0000006625 (NC_000023.10:g.40523365G>C, MED14(NM_004229.3):c.3448+194C>G)

Individual ID 00000208
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.40523365G>C
DNA change (hg38) g.40664113G>C
Published as -
ISCN -
DB-ID MED14_000013 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2012-09-13 12:05:04 +02:00 (CEST)
Date last edited 2020-07-19 19:02:42 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED14 NM_004229.3 ?/. - c.3448+194C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000209 DNA SEQ-NG-I - - - 6369 Yu Sun