Variant #0000856599 (NC_000023.10:g.40506327T>C, MED14(NM_004229.3):c.*4731A>G)

Chromosome X
Allele Unknown
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.40506327T>C
DNA change (hg38) -
Published as CXorf38(NM_144970.2):c.283A>G (p.N95D)
ISCN -
DB-ID MED14_000051
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED14 NM_004229.3 ?/. - c.*4731A>G r.(=) p.(=)
CXorf38 NM_144970.2 ?/. - c.283A>G r.(?) p.(Asn95Asp)