Variant #0000250499 (NC_000023.10:g.70361806A>C, MED12(NM_005120.2):c.6482A>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.70361806A>C
DNA change (hg38) g.71141956A>C
Published as MED12(NM_005120.2):c.6482A>C (p.Q2161P)
ISCN -
DB-ID MED12_000138
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED12 NM_005120.2 +?/. - c.6482A>C r.(?) p.(Gln2161Pro)
NLGN3 NM_018977.3 +?/. - c.-3209A>C r.(?) p.(=)