Variant #0000693710 (NC_000023.10:g.70360663_70360668dup, MED12(NM_005120.2):c.6223_6228dup)

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.70360663_70360668dup
DNA change (hg38) -
Published as MED12(NM_005120.2):c.6207_6208insCAGCAG (p.?), MED12(NM_005120.3):c.6223_6228dupCAGCAG (p.Q2075_Q2076dup)
ISCN -
DB-ID MED12_000116 See all 2 reported entries
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED12 NM_005120.2 -?/. - c.6223_6228dup r.(?) p.(Gln2075_Gln2076dup)
NLGN3 NM_018977.3 -?/. - c.-4352_-4347dup r.(?) p.(=)