Variant #0000283544 (NC_000001.10:g.43232504C>A, NM_022356.3:c.139G>T (P3H1))

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.43232504C>A
DNA change (hg38) g.42766833C>A
Published as P3H1(NM_022356.3):c.139G>T (p.A47S)
ISCN -
DB-ID P3H1_000089 See all 3 reported entries
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) 0.03093 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P3H1 NM_022356.3 -/. - c.139G>T r.(?) p.(Ala47Ser)
C1orf50 NM_024097.3 -/. - c.-479C>A r.(?) p.(=)


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