Variant #0000211243 (NC_000011.9:g.?, NM_012309.4:c.1829C>A (SHANK2))

Individual ID 00121883
Chromosome 11
Allele Parent #1
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.?
DNA change (hg38) -
Published as C692A, S231Y AB208026.1
ISCN -
DB-ID SHANK2_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Berkel 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Jacopo Celli
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jacopo Celli
Date created 2010-07-22 11:56:06 +02:00 (CEST)
Date last edited 2017-09-14 11:13:01 +02:00 (CEST)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHANK2 NM_012309.4 ?/. 14 c.1829C>A r.(?) p.(Ser610Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122351 DNA SEQ - - SHANK2 1 Jacopo Celli


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