chr1:27023016:C>T Detail (hg19) (ARID1A)

Information

Genome

Assembly Position
hg19 chr1:27,023,016-27,023,016
hg38 chr1:26,696,525-26,696,525 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006015.4:c.122C>T NP_006006.3:p.Ala41Val
NM_139135.2:c.122C>T NP_624361.1:p.Ala41Val
Ensemble ENST00000324856.13:c.122C>T ENST00000324856.13:p.Ala41Val
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 Conflicting classifications of pathogenicity
Review star
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 tgv122194156 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2020-05-07 criteria provided, single submitter Intellectual disability, autosomal dominant 14 inherited Detail
Benign 2023-10-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) AND Intellectual disability, autosomal dominant 14 ClinVar Detail
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) AND not provided 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
rs1295137307 dbSNP
Genome
hg19
Position
chr1:27,023,016-27,023,016
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))
rs1295137307
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16732
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