Variant #0000000281 (NC_000012.11:g.103260383T>C, PAH(NM_000277.1):c.500A>G)

Individual ID 00000013
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.103260383T>C
DNA change (hg38) g.102866605T>C
Published as -
ISCN -
DB-ID PAH_000001 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00101 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 ?/. - c.500A>G r.(?) p.(Asn167Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000013 DNA SEQ-NG - - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 8 Global Variome, with Curator vacancy