Variant #0000664261 (NC_000001.10:g.120269703G>A, PHGDH(NM_006623.3):c.488G>A)

Individual ID 00300227
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.120269703G>A
DNA change (hg38) g.119727080G>A
Published as -
ISCN -
DB-ID PHGDH_000002 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHGDH NM_006623.3 +/. - c.488G>A r.(?) p.(Arg163Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301342 DNA SEQ - - PHGDH 1 Fatima Abdelfattah