Variant #0000256528 (NC_000016.9:g.30774748A>G, NM_000294.2:c.*6330A>G (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.30774748A>G
DNA change (hg38) g.30763427A>G
Published as RNF40(NM_014771.3):c.310A>G (p.T104A)
ISCN -
DB-ID RNF40_000001
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKG2 NM_000294.2 ?/. - c.*6330A>G r.(=) p.(=)
C16orf93 NM_001014979.2 ?/. - c.-1679T>C r.(?) p.(=)
RNF40 NM_014771.3 ?/. - c.310A>G r.(?) p.(Thr104Ala)


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