Variant #0000608463 (NC_000003.11:g.195965680C>T, NM_005017.2:c.983G>A (PCYT1A))

Chromosome 3
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.195965680C>T
DNA change (hg38) g.196238809C>T
Published as PCYT1A(NM_001312673.2):c.983G>A (p.R328H)
ISCN -
DB-ID PCYT1A_000028
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) 0.0003 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 14:54:23 +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     
PCYT1A NM_005017.2 -?/. - c.983G>A r.(?) p.(Arg328His)


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