Variant #0001002257 (NC_000016.9:g.30768272G>A, NM_000294.2:c.1075G>A (PHKG2))

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.30768272G>A
DNA change (hg38) -
Published as PHKG2(NM_000294.2):c.1075G>A (p.(Gly359Arg))
ISCN -
DB-ID C16orf93_000022
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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKG2 NM_000294.2 ?/. - c.1075G>A r.(?) p.(Gly359Arg)
C16orf93 NM_001014979.2 ?/. - c.*525C>T r.(=) p.(=)
RNF40 NM_014771.3 ?/. - c.-5481G>A r.(?) p.(=)


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