Variant #0000286226 (NC_000023.10:g.70360480T>C, MED12(NM_005120.2):c.6045-5T>C)

Chromosome X
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.70360480T>C
DNA change (hg38) g.71140630T>C
Published as MED12(NM_005120.2):c.6045-5T>C (, p.?), MED12(NM_005120.3):c.6045-5T>C
ISCN -
DB-ID MED12_000114 See all 3 reported entries
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) 1.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED12 NM_005120.2 -?/. - c.6045-5T>C r.spl? p.?
NLGN3 NM_018977.3 -?/. - c.-4535T>C r.(?) p.(=)