Variant #0000048384 (NC_000012.11:g.103237499T>C, PAH(NM_000277.1):c.1124A>G)

Individual ID 00025488
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.103237499T>C
DNA change (hg38) g.102843721T>C
Published as -
ISCN -
DB-ID PAH_000011
Variant remarks -
Reference PubMed: Ajami 2013, Journal: Ajami 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Naser Ajami
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 ?/. 11 c.1124A>G r.(?) p.(Gln375Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025491 DNA SEQ Blood - PAH 4 Naser Ajami