Genomic variant #0000036881

Individual ID 00016951
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.10404864A>T
DNA change (hg38) g.10404631A>T
Published as NM_00104242:c.629T>A (V210D)
ISCN -
DB-ID TFAP2A_000003
Variant remarks ClinVar-192351
Reference PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andrey Marakhonov




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TFAP2A NM_003220.2 +?/. 4 c.641T>A - r.(?) p.(Val214Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016928 DNA SEQ blood - TFAP2A 1 Andrey Marakhonov