chr19:11118598:G>A Detail (hg19) (SMARCA4)

Information

Genome

Assembly Position
hg19 chr19:11,118,598-11,118,598
hg38 chr19:11,007,922-11,007,922 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003072.3:c.2022G>A NP_003063.2:p.Pro674=
NM_001128844.1:c.2022G>A NP_001122316.1:p.Pro674=
NM_001128845.1:c.2022G>A NP_001122317.1:p.Pro674=
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603254 OMIM
HGNC 11100 HGNC
Ensembl ENSG00000127616 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM990743 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ill-defined sites within the digestive system not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-11-18 criteria provided, single submitter Rhabdoid tumor predisposition syndrome 2 germline Detail
Benign Likely benign 2021-04-28 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=) AND Rhabdoid tumor predisposition syndrome 2 ClinVar Detail
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=) AND Hereditary cancer-predisposing syndrome ClinVar 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
rs539865173 dbSNP
Genome
hg19
Position
chr19:11,118,598-11,118,598
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120760
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.484266313348791E-5
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