Variant #0000517417 (NC_000003.11:g.112727222G>T, NM_015412.3:c.1031C>A (C3orf17))

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.112727222G>T
DNA change (hg38) g.113008375G>T
Published as C3orf17(NM_015412.3):c.1031C>A (p.(Ser344Tyr))
ISCN -
DB-ID C3orf17_000002
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) 0.01599 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-11-27 17:27:23 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C3orf17 NM_015412.3 -?/. - c.1031C>A r.(?) p.(Ser344Tyr)


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