Variant #0000569396 (NC_000020.10:g.32000520G>C, NM_003098.2:c.770C>G (SNTA1))

Chromosome 20
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.32000520G>C
DNA change (hg38) g.33412714G>C
Published as SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G)
ISCN -
DB-ID SNTA1_000007 See all 6 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) 0.00177 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 2019-07-18 18:22:55 +02:00 (CEST)
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     
SNTA1 NM_003098.2 -?/. - c.770C>G r.(?) p.(Ala257Gly)


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