Variant #0000502723 (NC_000001.10:g.120277341C>G, PHGDH(NM_006623.3):c.595C>G)

Chromosome 1
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.120277341C>G
DNA change (hg38) g.119734718C>G
Published as PHGDH(NM_006623.3):c.595C>G (p.L199V)
ISCN -
DB-ID PHGDH_000015
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) 0.0014 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHGDH NM_006623.3 -/. - c.595C>G r.(?) p.(Leu199Val)