Variant #0000282452 (NC_000023.10:g.70361160_70361171dup, MED12(NM_005120.2):c.6348_6359dup)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70361160_70361171dup
DNA change (hg38) g.71141310_71141321dup
Published as MED12(NM_005120.2):c.6339_6340insCAGCAACACCAG (p.(His2116_Gln2119dup)), MED12(NM_005120.2):c.6348_6359dupCCAGCAGCAACA (p.H2116_Q2119dup), MED12(NM...)
ISCN -
DB-ID MED12_000118 See all 4 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) 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.6348_6359dup r.(?) p.(His2116_Gln2119dup)
NLGN3 NM_018977.3 -/. - c.-3855_-3844dup r.(?) p.(=)