Variant #0000315906 (NC_000019.9:g.7702050G>A, NM_006949.2:c.15G>A (STXBP2))

Chromosome 19
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.7702050G>A
DNA change (hg38) g.7637164G>A
Published as STXBP2(NM_001272034.1):c.15G>A (p.G5=)
ISCN -
DB-ID STXBP2_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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PET100 NM_001171155.1 -?/. - c.*5608G>A r.(=) p.(=)
STXBP2 NM_006949.2 -?/. - c.15G>A r.(?) p.(Gly5=)
PCP2 NM_174895.1 -?/. - c.-3707C>T r.(?) p.(=)


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