chr9:2084156:C>T Detail (hg19) (SMARCA2)

Information

Genome

Assembly Position
hg19 chr9:2,084,156-2,084,156
hg38 chr9:2,084,156-2,084,156 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003070.4:c.2486C>T NP_003061.3:p.Thr829Ile
NM_139045.3:c.2486C>T NP_620614.2:p.Thr829Ile
NM_001289396.1:c.2486C>T NP_001276325.1:p.Thr829Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic 2017-10-13 criteria provided, single submitter Nicolaides-Baraitser syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Nicolaides Baraitser syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) AND Nicolaides-Baraitser syndrome ClinVar Detail
NA 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
rs797045974 dbSNP
Genome
hg19
Position
chr9:2,084,156-2,084,156
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser