Variant #0000322387 (NC_000011.9:g.70336479C>T, NM_012309.4:c.2306G>A (SHANK2))

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.70336479C>T
DNA change (hg38) g.70489345C>T
Published as SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H)
ISCN -
DB-ID SHANK2_000021 See all 3 reported entries
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) 0.00467 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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     
SHANK2 NM_012309.4 ?/. - c.2306G>A r.(?) p.?


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