Variant #0000334571 (NC_000023.10:g.70361738G>C, MED12(NM_005120.2):c.6414G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.70361738G>C
DNA change (hg38) g.71141888G>C
Published as MED12(NM_005120.2):c.6414G>C (p.(Gln2138His))
ISCN -
DB-ID MED12_000121
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_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.6414G>C r.(?) p.(Gln2138His)
NLGN3 NM_018977.3 ?/. - c.-3277G>C r.(?) p.(=)