Genomic variant #0000001316

Individual ID 00000019
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70341169A>C
DNA change (hg38) g.71121319A>C
Published as -
ISCN -
DB-ID MED12_000024 See all 5 reported entries
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.23677 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MED12 NM_005120.2 ?/. 5i c.736-8A>C - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 LOVD-team, but with Curator vacancy