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rs28932178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C)
(C;T)
(T;T) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome5
Position177210575
GeneNSD1
is asnp
is mentioned by
dbSNPrs28932178
ebirs28932178
HLIrs28932178
Exacrs28932178
Varsomers28932178
Maprs28932178
PheGenIrs28932178
hapmaprs28932178
1000 genomesrs28932178
hgdprs28932178
ensemblrs28932178
gopubmedrs28932178
geneviewrs28932178
scholarrs28932178
googlers28932178
pharmgkbrs28932178
gwascentralrs28932178
openSNPrs28932178
23andMers28932178
23andMe allrs28932178
SNP Nexus

SNPshotrs28932178
SNPdbers28932178
MSV3drs28932178
GWAS Ctlgrs28932178
GMAF0.241
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs28932178, also known as c.2176T>C, p.Ser726Pro and S726P, is a SNP in the NSD1 gene on chromosome 5.

Because some (rare) variants in the NSD1 gene have been linked to Sotos syndrome, an overgrowth syndrome characterized by macrocephaly and learning disabilities, and Sotos syndrome has been observed in some autistic patients, it has been hypothesized that some NSD1 variants may lead to increased risk for autism. However, there is no evidence to date in support of this hypothesis.


Venter snp
Source plos
Gene NSD1
allele C
frequency
sift
HuRef 1103654302880
Disease Association *A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product. *Changes in the NSD1 gene can cause Sotos syndrome.



[PMID 18001468OA-icon.png] Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.


GET Evidence
NSD1-S726P
aa_change Ser726Pro
aa_change_short S726P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.12902
summary



ClinVar
Risk rs28932178(C;C)
Alt rs28932178(C;C)
Reference rs28932178(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NSD1
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.176637576T>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000082108.5,