Variant #0000328509 (NC_000020.10:g.57415798_57415800del, NM_000516.4:c.-50984_-50982del (GNAS))

Chromosome 20
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.57415798_57415800del
DNA change (hg38) g.58840743_58840745del
Published as GNAS(NM_016592.2):c.632_634del (p.(Glu213del))
ISCN -
DB-ID GNAS-AS1_000003
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_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 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     
GNAS NM_000516.4 ?/. - c.-50984_-50982del r.(?) p.(=)
GNAS NM_016592.2 ?/. - c.637_639del r.(?) p.(Glu213del)
GNAS NM_080425.2 ?/. - c.-12523_-12521del r.(?) p.(=)
GNAS-AS1 NR_002785.2 ?/. - n.819+1197_819+1199del r.(?) -


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