Variant #0000048964 (NC_000012.11:g.103237468G>C, PAH(NM_000277.1):c.1155C>G)

Individual ID 00025488
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103237468G>C
DNA change (hg38) g.102843690G>C
Published as L385L
ISCN -
DB-ID PAH_000014
Variant remarks Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
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) 0.82716 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 -/. 11 c.1155C>G r.(=) p.(Leu385=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025491 DNA SEQ Blood - PAH 4 Naser Ajami