Variant #0000717510 (NC_000001.10:g.43900128T>C, NM_015284.3:c.5705T>C (SZT2))

Chromosome 1
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.43900128T>C
DNA change (hg38) -
Published as SZT2(NM_001365999.1):c.5876T>C (p.V1959A), SZT2(NM_015284.3):c.5705T>C (p.V1902A)
ISCN -
DB-ID HYI_000077
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) 3.0E-5 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 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2024-02-26 20:06:56 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SZT2 NM_015284.3 ?/. - c.5705T>C r.(?) p.(Val1902Ala)
HYI NM_031207.5 ?/. - c.*16853A>G r.(=) p.(=)


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