Variant #0000552595 (NC_000014.8:g.50605520del, NC_000014.8(NM_006939.2):c.2786-6del (SOS2))

Chromosome 14
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.50605520del
DNA change (hg38) g.50138802del
Published as SOS2(NM_006939.4):c.2786-6delT
ISCN -
DB-ID SOS2_000014
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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     
SOS2 NM_006939.2 -/. - c.2786-6del r.(=) p.(=)


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