Variant #0000542772 (NC_000011.9:g.121391382_121391383insAAATGCAAATGAAGTCAG, NM_003105.5:c.1228_1229insAAATGCAAATGAAGTCAG (SORL1))

Chromosome 11
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.121391382_121391383insAAATGCAAATGAAGTCAG
DNA change (hg38) g.121520673_121520674insAAATGCAAATGAAGTCAG
Published as SORL1(NM_003105.5):c.1228_1229insAAATGCAAATGAAGTCAG (p.P410delins7)
ISCN -
DB-ID SORL1_000238
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SORL1 NM_003105.5 ?/. - c.1228_1229insAAATGCAAATGAAGTCAG r.(?) p.(Pro410delinsGlnMetGlnMetLysSerAla)


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