Variant #0000682606 (NC_000023.10:g.70360646_70360647insGCATCAGCAGCAACAGCA, MED12(NM_005120.2):c.6206_6207insGCATCAGCAGCAACAGCA)

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.70360646_70360647insGCATCAGCAGCAACAGCA
DNA change (hg38) -
Published as MED12(NM_005120.2):c.6192_6193insCAGCAGCAACAGCAGCAT (p.(Gln2064_Gln2065insGlnGlnGlnGlnGlnHis))
ISCN -
DB-ID MED12_000202
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MED12 NM_005120.2 -?/. - c.6206_6207insGCATCAGCAGCAACAGCA r.(?) p.(Gln2069_Gln2070insHisGlnGlnGlnGlnGln)
NLGN3 NM_018977.3 -?/. - c.-4369_-4368insGCATCAGCAGCAACAGCA r.(?) p.(=)