Variant #0000502726 (NC_000001.10:g.120286620C>A, PHGDH(NM_006623.3):c.1559C>A)

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.120286620C>A
DNA change (hg38) g.119743997C>A
Published as PHGDH(NM_006623.4):c.1559C>A (p.A520E)
ISCN -
DB-ID PHGDH_000011
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) 0.00108 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGCS2 NM_005518.3 -?/. - c.*4850G>T r.(=) p.(=)
PHGDH NM_006623.3 -?/. - c.1559C>A r.(?) p.(Ala520Glu)