Variant #0000616801 (NC_000017.10:g.72838817_72838822del, NM_017728.3:c.*5991_*5996del (TMEM104))

Chromosome 17
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.72838817_72838822del
DNA change (hg38) g.74842678_74842683del
Published as GRIN2C(NM_000835.5):c.3463_3468delGCCCAC (p.A1155_H1156del)
ISCN -
DB-ID TMEM104_000006
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIN2C NM_000835.4 ?/. - c.3463_3468del r.(?) p.(Ala1155_His1156del)
TMEM104 NM_017728.3 ?/. - c.*5991_*5996del r.(=) p.(=)


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