Genomic variant #0000067243

Individual ID 00039397
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112035060C>G
DNA change (hg38) g.112791832C>G
Published as NM_001113490.1:c.1926G>C
ISCN -
DB-ID AMOT_000003
Variant remarks -
Reference PubMed: Bosch 2016, Journal: Bosch 2016
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 Danielle Bosch




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMOT NM_133265.2 +?/. 7 c.699G>C - r.spl? p.(Gln233His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000039638 DNA SEQ-NG - - - 1 Danielle Bosch