Variant #0000000093 (NC_000001.10:g.43225040G>A, P3H1(NM_022356.3):c.640C>T)

Individual ID 00000039
Chromosome 1
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.43225040G>A
DNA change (hg38) g.42759369G>A
Published as -
ISCN -
DB-ID P3H1_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 4.0E-5 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P3H1 NM_022356.3 ?/. - c.640C>T r.(?) p.(Arg214*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000039 DNA SEQ-NG - - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 14 Global Variome, with Curator vacancy