Variant #0000048962 (NC_000012.11:g.103237958_103237959delinsCG, PAH(NM_000277.1):c.1065+155_1065+156delinsCG)

Individual ID 00025488
Chromosome 12
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103237958_103237959delinsCG
DNA change (hg38) g.102844180_102844181delinsCG
Published as IVS10+155T>C, IVS10+156T>G
ISCN -
DB-ID PAH_000012
Variant remarks -
Reference PubMed: Ajami 2013, Journal: Ajami 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 -?/. 10i c.1065+155_1065+156delinsCG r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025491 DNA SEQ Blood - PAH 4 Naser Ajami