Variant #0000347439 (NC_000002.11:g.39283845T>C, SOS1(NM_005633.3):c.508A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39283845T>C
DNA change (hg38) g.39056704T>C
Published as SOS1(NM_005633.3):c.508A>G (p.(Lys170Glu), p.K170E)
ISCN -
DB-ID SOS1_000152
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOS1 NM_005633.3 +/. - c.508A>G r.(?) p.(Lys170Glu)