chr1:26773632:C>T Detail (hg38) (ARID1A)

Information

Genome

Assembly Position
hg19 chr1:27,100,123-27,100,123 View the variant detail on this assembly version.
hg38 chr1:26,773,632-26,773,632

HGVS

Type Transcript Protein
RefSeq NM_006015.4:c.3919C>T NP_006006.3:p.Pro1307Ser
NM_139135.2:c.3919C>T NP_624361.1:p.Pro1307Ser
Ensemble ENST00000324856.13:c.3919C>T ENST00000324856.13:p.Pro1307Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603024 OMIM
HGNC 11110 HGNC
Ensembl ENSG00000117713 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv83691066 TogoVar
COSMIC COSM5945892 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
rs1403660255 dbSNP
Genome
hg38
Position
chr1:26,773,632-26,773,632
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1403660255
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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