Variant #0000716729 (NC_000001.10:g.120284480T>A, PHGDH(NM_006623.3):c.1169T>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.120284480T>A
DNA change (hg38) -
Published as PHGDH(NM_006623.3):c.1169T>A (p.(Leu390*))
ISCN -
DB-ID PHGDH_000027
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHGDH NM_006623.3 +?/. - c.1169T>A r.(?) p.(Leu390*)