Variant #0000320920 (NC_000001.10:g.120278072T>G, PHGDH(NM_006623.3):c.792+6T>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.120278072T>G
DNA change (hg38) g.119735449T>G
Published as PHGDH(NM_006623.3):c.792+6T>G (p.(=))
ISCN -
DB-ID PHGDH_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01109 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHGDH NM_006623.3 -?/. - c.792+6T>G r.(=) p.(=)