Variant #0000797424 (NC_000016.9:g.79632908T>A, MAF(NM_001031804.2):c.892A>T)

Individual ID 00382147
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79632908T>A
DNA change (hg38) g.79599011T>A
Published as c.892A-->T; p.Asn298Tyr
ISCN -
DB-ID MAF_000034
Variant remarks no Sanger sequencing; heterozygous
Reference PubMed: Patel 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAF NM_001031804.2 +?/. - c.892A>T r.(?) p.(Asn298Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383363 DNA SEQ-NG blood - MAF 1 LOVD