chr9:2088568:A>T Detail (hg38) (SMARCA2)

Information

Genome

Assembly Position
hg19 chr9:2,088,568-2,088,568 View the variant detail on this assembly version.
hg38 chr9:2,088,568-2,088,568

HGVS

Type Transcript Protein
RefSeq NM_003070.4:c.2838A>T NP_003061.3:p.Leu946Phe
NM_139045.3:c.2838A>T NP_620614.2:p.Leu946Phe
NM_001289396.1:c.2838A>T NP_001276325.1:p.Leu946Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 600014 OMIM
HGNC 11098 HGNC
Ensembl ENSG00000080503 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Nicolaides Baraitser syndrome Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. UNIPROT 22366787 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe) AND not provided ClinVar Detail
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281875205 dbSNP
Genome
hg38
Position
chr9:2,088,568-2,088,568
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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