Variant #0000283659 (NC_000023.10:g.70361183C>T, MED12(NM_005120.2):c.6371C>T)

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.70361183C>T
DNA change (hg38) g.71141333C>T
Published as MED12(NM_005120.2):c.6371C>T (p.A2124V)
ISCN -
DB-ID MED12_000119
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED12 NM_005120.2 ?/. - c.6371C>T r.(?) p.(Ala2124Val)
NLGN3 NM_018977.3 ?/. - c.-3832C>T r.(?) p.(=)